| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
AAVance gene therapy study in children with mucopolysaccharidosis type IIIA
|
Laufer, Ralph
|
|
|
135 |
2 |
p. S71-S72
|
artikel
|
| 2 |
AAVHSCs and nervous system-targeted gene therapy for lysosomal disorders
|
Seabrook, Tania
|
|
|
135 |
2 |
p. S110
|
artikel
|
| 3 |
A blinded randomized phase 2/3 study of the efficacy and safety of intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II
|
Harris, Jeffrey
|
|
|
135 |
2 |
p. S55
|
artikel
|
| 4 |
A comparison of clinical features in two patients with mucopolysaccharidosis type VI treated with ERT versus HSCT
|
Curtin, Emily
|
|
|
135 |
2 |
p. S34
|
artikel
|
| 5 |
A concerted action to explore therapies for free sialic acid storage disease (FSASD)
|
Huizing, Marjan
|
|
|
135 |
2 |
p. S59-S60
|
artikel
|
| 6 |
A cross-sectional natural history study of aspartylglucosaminuria
|
Goodspeed, Kimberly
|
|
|
135 |
2 |
p. S49-S50
|
artikel
|
| 7 |
A double-blind placebo-controlled phase 2 study to evaluate the safety and tolerability of pentosan polysulfate sodium in subjects with mucopolysaccharidosis type VI (MPS VI)
|
Giugliani, Roberto
|
|
|
135 |
2 |
p. S47
|
artikel
|
| 8 |
Adult acid sphingomyelinase deficiency (Niemann-Pick disease type B): A difficult pathway to a diagnosis in 4 novel cases
|
Villarrubia, Jesús
|
|
|
135 |
2 |
p. S125
|
artikel
|
| 9 |
A Hunter syndrome sibling pair: Differential effects of age at initiation of enzyme replacement therapy on growth, orthopedic disease, and daily living skills
|
Polgreen, Lynda E.
|
|
|
135 |
2 |
p. S99
|
artikel
|
| 10 |
All for one, not one for all: Developing and implementing a multifaceted approach to NBS education equitable access to newborn screening education
|
Raia, Marianna H.
|
|
|
135 |
2 |
p. S103
|
artikel
|
| 11 |
Alpha-mannosidosis is underdiagnosed lysosomal disease
|
Schwarz, Markus
|
|
|
135 |
2 |
p. S109-S110
|
artikel
|
| 12 |
Alternative dosing strategies among a variety of patients with lysosomal diseases
|
Henderson, Nadene D.
|
|
|
135 |
2 |
p. S55
|
artikel
|
| 13 |
Amelioration of enteric nervous system defects via gene therapy in CLN1 disease mice
|
Cooper, Jonathan D.
|
|
|
135 |
2 |
p. S33
|
artikel
|
| 14 |
An adenoviral mediated gene therapy for mucopolysaccharidosis type I
|
Hurt, Sarah
|
|
|
135 |
2 |
p. S60
|
artikel
|
| 15 |
Analysis of GM1 gangliosidosis iPS cells provides new phenotype of neural dysfunction and drug candidates
|
Era, Takumi
|
|
|
135 |
2 |
p. S41-S42
|
artikel
|
| 16 |
Analysis of overall survival in patients with acid sphingomyelinase deficiency type B using the standardized mortality ratio method
|
Kapetanakis, Venediktos
|
|
|
135 |
2 |
p. S64
|
artikel
|
| 17 |
Analysis of pooled data from clinical trials in treatment-naïve patients with late-onset Pompe disease (LOPD) to inform on the efficacy of avalglucosidase alfa
|
Mozaffar, Tahseen
|
|
|
135 |
2 |
p. S86
|
artikel
|
| 18 |
Analysis of survival in patients with acid sphingomyelinase deficiency type B using a large, deidentified US electronic health record database
|
Pullikotil-Jacob, Ruth
|
|
|
135 |
2 |
p. S102
|
artikel
|
| 19 |
A natural history and outcome measure discovery study of variant late infantile neuronal ceroid lipofuscinosis type 5 and variant late infantile neuronal ceroid lipofuscinosis type 7
|
Jacobsen, Leslie
|
|
|
135 |
2 |
p. S62
|
artikel
|
| 20 |
A natural history study of Sanfilippo syndrome type D (MPS type IIID)
|
Lau, Heather A.
|
|
|
135 |
2 |
p. S71
|
artikel
|
| 21 |
A new algorithm for Gaucher disease diagnosis in dried blood spots
|
Frabasil, Joaquin
|
|
|
135 |
2 |
p. S43-S44
|
artikel
|
| 22 |
An 18-month report on the safety and efficacy of rapid intravenous velaglucerase alfa infusions in naïve patients with Gaucher disease
|
Becker-Cohen, Michal
|
|
|
135 |
2 |
p. S22
|
artikel
|
| 23 |
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA
|
Wijburg, Frits A.
|
|
|
135 |
2 |
p. 133-142
|
artikel
|
| 24 |
An open-label, phase 1/2 trial of gene therapy 4D-310 in adult males with Fabry disease
|
Vockley, Jerry
|
|
|
135 |
2 |
p. S125
|
artikel
|
| 25 |
A novel enzymatic diagnosis method of lysosomal diseases
|
Giraldo, Pilar
|
|
|
135 |
2 |
p. S46-S47
|
artikel
|
| 26 |
A novel experimental mouse model to investigate a free sialic acid storage disorder (Salla disease)
|
Sabir, Marya S.
|
|
|
135 |
2 |
p. S107
|
artikel
|
| 27 |
A novel S1S3 phosphotransferase co-expression gene therapy platform for lysosomal disorders
|
Hedman, Andrew C.
|
|
|
135 |
2 |
p. S55
|
artikel
|
| 28 |
Anthropometric and joint deficits in children with mucopolysaccharidosis despite current treatments: A 10-year multi-site longitudinal study
|
Polgreen, Lynda E.
|
|
|
135 |
2 |
p. S100
|
artikel
|
| 29 |
A one-time treatment to continuously and permanently deliver lysosomal enzymes to the CNS
|
Johe, Karl
|
|
|
135 |
2 |
p. S63
|
artikel
|
| 30 |
Aortic dilation in murine mucopolysaccharidosis type I: A tale of two strains
|
Braunlin, Elizabeth
|
|
|
135 |
2 |
p. S25
|
artikel
|
| 31 |
A phase I/II clinical study of intravenous administration of JR-171, a blood-brain barrier-crossing enzyme, in mucopolysaccharidosis type I: An update
|
Hamazaki, Takashi
|
|
|
135 |
2 |
p. S52-S53
|
artikel
|
| 32 |
A phase 1/2 open-label, multicenter, dose ranging and confirmatory study to assess the safety, tolerability and efficacy of PBKR03 administered to pediatric subjects with early infantile Krabbe disease (globoid cell leukodystrophy; GALax-C)
|
Mallack, Eric J.
|
|
|
135 |
2 |
p. S79-S80
|
artikel
|
| 33 |
Application of artificial intelligence to predict protein biomarker candidates for the assessment of prognosis in patients with metachromatic leukodystrophy
|
Gómez, Jessica
|
|
|
135 |
2 |
p. S49
|
artikel
|
| 34 |
A proposal to efficiently improve diagnostic clarity, therapeutic and clinical referrals, disease and therapeutic understanding, and quality of life in the newborn screening ecosystem while reducing cost and overhead
|
Suhr, Dean
|
|
|
135 |
2 |
p. S117
|
artikel
|
| 35 |
A qualitative study to understand caregivers' burden of acid sphingomyelinase deficiency (ASMD)
|
Pokrzywinski, Robin
|
|
|
135 |
2 |
p. S99
|
artikel
|
| 36 |
A rabbit model of cystinosis has deposition of cystine crystals in the cornea
|
Yang, Dongshan
|
|
|
135 |
2 |
p. S129
|
artikel
|
| 37 |
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Hurler syndrome
|
Sun, Angela
|
|
|
135 |
2 |
p. S117-S118
|
artikel
|
| 38 |
A review of common data elements in RUSP submission packages
|
Broadbridge, Liesl
|
|
|
135 |
2 |
p. S26
|
artikel
|
| 39 |
Arimoclomol increases the transcription of lysosomal genes, including NPC1 and NPC2, to facilitate lysosomal function
|
Petersen, Nikolaj H.T.
|
|
|
135 |
2 |
p. S96
|
artikel
|
| 40 |
Arimoclomol reduces levels of biomarkers of lipid burden in patients with Niemann-Pick disease type C
|
Andersen, Lene
|
|
|
135 |
2 |
p. S18
|
artikel
|
| 41 |
Assessing bone mineral density in Fabry disease
|
Lee, Grace
|
|
|
135 |
2 |
p. S73
|
artikel
|
| 42 |
Association between changes over time in pulmonary function and in patient reported outcomes of adult Pompe disease patients
|
Lika, Aglina
|
|
|
135 |
2 |
p. S74-S75
|
artikel
|
| 43 |
A study of intracisternal administration of adeno-associated viral vector serotype rh.10 carrying the human β-galactosidase cDNA for the treatment of GM1 gangliosidosis: Preliminary results of the safety cohort
|
Frapaise, Francois-Xavier
|
|
|
135 |
2 |
p. S44
|
artikel
|
| 44 |
A study to evaluate the effect of venglustat on neuropathic and abdominal pain in symptomatic adult patients with Fabry disease
|
Hopkin, Robert
|
|
|
135 |
2 |
p. S56-S57
|
artikel
|
| 45 |
A study to identify individuals at risk to be affected by Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE)
|
Quirin, Kayla A.
|
|
|
135 |
2 |
p. S103
|
artikel
|
| 46 |
AT845 gene replacement therapy for late onset Pompe disease: Overview of clinical data from FORTIS, a phase 1/2 open-label clinical study
|
Mozaffar, Tahseen
|
|
|
135 |
2 |
p. S85-S86
|
artikel
|
| 47 |
Automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry disease
|
Smerkous, David
|
|
|
135 |
2 |
p. S113
|
artikel
|
| 48 |
Avalglucosidase alfa immunogenicity in alglucosidase alfa-experienced participants with Pompe disease: Pooled analysis of clinical trial data
|
Kishnani, Priya S.
|
|
|
135 |
2 |
p. S67-S68
|
artikel
|
| 49 |
A 3-year pilot screening program for lysosomal disorders in the Latin America (LATAM) region using an integrated enzymatic and molecular approach
|
Al-Hertani, Walla
|
|
|
135 |
2 |
p. S16-S17
|
artikel
|
| 50 |
Baby-COMET methodology: A clinical study of the efficacy, safety, pharmacokinetics, and pharmacodynamics of avalglucosidase alfa in treatment-naïve participants with IOPD
|
Broomfield, Alexander
|
|
|
135 |
2 |
p. S26
|
artikel
|
| 51 |
Baseline demographics and clinical characteristics of patients enrolled in the followME Fabry Pathfinders registry
|
Nordbeck, Peter
|
|
|
135 |
2 |
p. S89-S90
|
artikel
|
| 52 |
BBB-targeted GAA delivered as gene therapy treats CNS and muscle in Pompe disease model mice
|
Praggastis, Maria
|
|
|
135 |
2 |
p. S100
|
artikel
|
| 53 |
Behavioral and whole transcriptome analyses of a gba-haploinsufficient Parkinson murine model
|
Perez, Gani
|
|
|
135 |
2 |
p. S95
|
artikel
|
| 54 |
Behavioral characterization of homozygous 6 neo mice as model of Pompe disease
|
Breznik, Livia
|
|
|
135 |
2 |
p. S25-S26
|
artikel
|
| 55 |
Behavioral improvement in a 9-year-old patient with MPS II undergoing enzyme replacement therapy with pabinafusp alfa: A case report
|
Souza, Carolina
|
|
|
135 |
2 |
p. S115
|
artikel
|
| 56 |
Benefits of home infusion for lysosomal disease patients
|
Campbell, Angela
|
|
|
135 |
2 |
p. S28
|
artikel
|
| 57 |
Beyond the normative data: Understanding the Bayley Scales of Infant Development version 3 (BSID-III)
|
Cho, Yoonjin
|
|
|
135 |
2 |
p. S31
|
artikel
|
| 58 |
Beyond the normative data: Understanding the Mullen Scales of Early Learning (MSEL)
|
Cho, Yoonjin
|
|
|
135 |
2 |
p. S31
|
artikel
|
| 59 |
Bioinformatics analyses of the brain connectome in MPS I vs control mice: Neural network biomarkers for disease diagnosis
|
Low, Walter
|
|
|
135 |
2 |
p. S77
|
artikel
|
| 60 |
Biomimetic 3D tissue printing to create an in vitro bone model for Gaucher disease
|
Banerjee, Dishary
|
|
|
135 |
2 |
p. S21
|
artikel
|
| 61 |
BNIP3 is involved in muscle fiber atrophy in late-onset Pompe disease patients
|
Diaz-Manera, Jordi
|
|
|
135 |
2 |
p. S37-S38
|
artikel
|
| 62 |
Bone marrow and umbilical cord blood are equivalent stem cell sources for Hurler syndrome
|
Lund, Troy
|
|
|
135 |
2 |
p. S77
|
artikel
|
| 63 |
Bone marrow transplantation in multiple sulfatase deficiency: 1 year follow up
|
Pillai, Nishitha R.
|
|
|
135 |
2 |
p. S98
|
artikel
|
| 64 |
Brain MRI findings of a glutaric aciduria type I: A case report and review of the literature
|
Mahir, Maissaa
|
|
|
135 |
2 |
p. S79
|
artikel
|
| 65 |
Can the profile of extracellular vesicles (EVs) reflect the disease states of patients with Gaucher disease and GBA1 carriers with or without Parkinson's disease?
|
Gleason, Adenrele M.
|
|
|
135 |
2 |
p. S48
|
artikel
|
| 66 |
cDNA analysis disclosed presumable discordance of genotype-phenotype correlation in a patient with attenuated MPS II having 76 base deletions in the gene for iduronate-2-sulfatase
|
Fukuhara, Yasuyuki
|
|
|
135 |
2 |
p. S45
|
artikel
|
| 67 |
Central nervous system distribution of stem cells in Sanfilippo syndrome type B mice by injection method
|
Ashby, Frederick
|
|
|
135 |
2 |
p. S19-S20
|
artikel
|
| 68 |
Characterization of a late-infantile subtype in GM2-gangliosidosis: First result of the German “Eight at One Stroke: Attention Gangliosidoses” registry
|
Mengel, Eugen
|
|
|
135 |
2 |
p. S81-S82
|
artikel
|
| 69 |
Characterization of AZ-3102, a novel brain-penetrant small molecule, in the Niemann-Pick disease type C mouse model
|
Landskroner, Kyle
|
|
|
135 |
2 |
p. S70
|
artikel
|
| 70 |
Characterization of in vivo and in vitro drug screening models for Gaucher disease based on GBA-D409V-KI mice
|
Loeffler, Tina
|
|
|
135 |
2 |
p. S75
|
artikel
|
| 71 |
Characterization of pain dimensions in Fabry disease
|
Hui, May
|
|
|
135 |
2 |
p. S59
|
artikel
|
| 72 |
Cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease (LOPD): PROPEL study subgroup analyses
|
Byrne, Barry
|
|
|
135 |
2 |
p. S27-S28
|
artikel
|
| 73 |
Clinical and laboratory profile of a pediatric Fabry disease cohort followed at a Brazilian reference center
|
Perillo, Gisele F.
|
|
|
135 |
2 |
p. S95-S96
|
artikel
|
| 74 |
Clinical, genetic characteristics in Russian patients with Hurler syndrome
|
Zhurkova, Natalia V.
|
|
|
135 |
2 |
p. S131-S132
|
artikel
|
| 75 |
Clinical investigator perspectives on the effects of intrathecal idursulfase-IT treatment in children with neuronopathic mucopolysaccharidosis type II
|
Yee, Karen S.
|
|
|
135 |
2 |
p. S129-S130
|
artikel
|
| 76 |
Clinical trial design for HMI-203 investigational gene therapy for mucopolysaccharidosis type II (MPS II) informed by cross-correction potential and KOL input
|
Gingras, Jacinthe
|
|
|
135 |
2 |
p. S46
|
artikel
|
| 77 |
Clinical trial update: Ex-vivo autologous hematopoietic stem cell gene therapy in MPS IIIA
|
Jones, Simon A.
|
|
|
135 |
2 |
p. S63-S64
|
artikel
|
| 78 |
Clustered analysis of Fabry disease progression in a large US electronic health records database: A retrospective observational cohort study
|
Chiorean, Alexandra
|
|
|
135 |
2 |
p. S31
|
artikel
|
| 79 |
Co-expression of S1S3 phosphotransferase in production cell line improves mannose 6-phosphorylation and cellular uptake of alpha-N-acetylglucosaminidase (Sanfilippo syndrome type B)
|
Dickson, Patricia I.
|
|
|
135 |
2 |
p. S38
|
artikel
|
| 80 |
Combination of high-dose ambroxol and ERT in Gaucher disease type 2: A nearly age-appropriate neurocognitive and motor development after three years of treatment
|
Aries, Charlotte
|
|
|
135 |
2 |
p. S19
|
artikel
|
| 81 |
Comparative effectiveness of intravenous and intrathecal AAV9.CB7.hIDS (RGX-121) in a murine model of mucopolysaccharidosis type II
|
Smith, Miles C.
|
|
|
135 |
2 |
p. S114
|
artikel
|
| 82 |
Comparison of psychosine analysis in dried blood spots and red blood cells from children with Krabbe disease
|
White, Amy L.
|
|
|
135 |
2 |
p. S127
|
artikel
|
| 83 |
Comparison of therapeutic potential of ERT to chaperone therapy in I270T related Fabry disease
|
Vanyo, Todd
|
|
|
135 |
2 |
p. S123
|
artikel
|
| 84 |
Complex neurocognitive function and quality of life in Morquio and Maroteaux-Lamy syndromes: A longitudinal investigation
|
Yund, Brianna D.
|
|
|
135 |
2 |
p. S130
|
artikel
|
| 85 |
Connect: Designing a first-in-human gene replacement therapy clinical trial for CLN1
|
Leal-Pardinas, Fernanda
|
|
|
135 |
2 |
p. S73
|
artikel
|
| 86 |
Continued improvement in pulmonary outcomes in 3 clinical trials of olipudase alfa in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years
|
Scarpa, Maurizio
|
|
|
135 |
2 |
p. S108
|
artikel
|
| 87 |
Continued improvement in pulmonary, visceral, biomarker and growth outcomes in children with chronic acid sphingomyelinase deficiency treated with olipudase alfa enzyme replacement therapy: 2-year results of ASCEND-Peds
|
Diaz, George A.
|
|
|
135 |
2 |
p. S37
|
artikel
|
| 88 |
Correlation analysis between lysosomal enzyme activities and the different types of leukocytes in dried blood spots
|
Frabasil, Joaquin
|
|
|
135 |
2 |
p. S43
|
artikel
|
| 89 |
Cover 2 / Ed. Board
|
|
|
|
135 |
2 |
p. IFC
|
artikel
|
| 90 |
CRISPR-mediated generation and characterization of the GAA homozygous c.1935c > a (p.d645e) Pompe disease knock-in mouse model
|
Harb, Jerry F.
|
|
|
135 |
2 |
p. S54
|
artikel
|
| 91 |
Current status of newborn screening for lysosomal diseases in Japan: Importance of novel therapies for central nervous system manifestation in MPS II, and importance of family screening of Fabry disease after newborn screening
|
Okuyama, Torayuki
|
|
|
135 |
2 |
p. S90-S91
|
artikel
|
| 92 |
Defining phenotype reversibility in lysosomal disease: Leveraging a COIN model in mucopolysaccharidosis type VI (MPS VI)
|
Hwang-Wong, Elizabeth
|
|
|
135 |
2 |
p. S60
|
artikel
|
| 93 |
Defining the role of Lyso-Gb1 as a biomarker over 12 months after first initiation of enzyme replacement therapy in patients with Gaucher disease in LYSO-PROVE study
|
Curado, Filipa
|
|
|
135 |
2 |
p. S34
|
artikel
|
| 94 |
Design of GALILEO-1, a phase 1/2 safety and efficacy study of FLT201 in adult patients with Gaucher disease type 1
|
Hughes, Derralynn A.
|
|
|
135 |
2 |
p. S57-S58
|
artikel
|
| 95 |
Detect Lysosomal Storage Diseases: A no-charge, sponsored, testing program that enables access to genetic testing, treatment, and clinical trials for individuals with suspected lysosomal disorders
|
McLaughlin, Heather M.
|
|
|
135 |
2 |
p. S81
|
artikel
|
| 96 |
Determination of urinary mannose by gas liquid chromatography mass spectrometry using a dried urine spot
|
Sabir, Es-Said
|
|
|
135 |
2 |
p. S107
|
artikel
|
| 97 |
Development and implementation of an automated severity scoring system to identify patients at possible increased risk for ten lysosomal disorders
|
Laney, Dawn A.
|
|
|
135 |
2 |
p. S70-S71
|
artikel
|
| 98 |
Development of a novel encapsulated non-viral cell-based, BBB-penetrant therapy for MPS I
|
Pearson, Erika
|
|
|
135 |
2 |
p. S94
|
artikel
|
| 99 |
Development of a novel encapsulated non-viral cell-based therapy for MPS VI
|
Pearson, Erika
|
|
|
135 |
2 |
p. S94-S95
|
artikel
|
| 100 |
Development of formulated resveratrol (micellar resveratrol) as a small molecule treatment for MPS I
|
Brothers, Shaun
|
|
|
135 |
2 |
p. S27
|
artikel
|
| 101 |
Development of multiplexed proteomic quantification of GAA and IDUA signature peptides in dried blood spots and buccal swabs by immuno-SRM-MS/MS for second-tier screening of Pompe disease and Hurler syndrome
|
Zhang, Tong
|
|
|
135 |
2 |
p. S130-S131
|
artikel
|
| 102 |
Diagnostic odysseys for treatable lysosomal diseases and the role of whole exome sequencing: Lessons learned
|
Siddharth, Aishwarya
|
|
|
135 |
2 |
p. S112-S113
|
artikel
|
| 103 |
Diagnostic strategy for suspected cases of Fabry disease
|
Oliva, Petra
|
|
|
135 |
2 |
p. S91
|
artikel
|
| 104 |
Differential diagnosis of Niemann-Pick disease type A/B in cases of suspected Gaucher disease
|
Oliva, Petra
|
|
|
135 |
2 |
p. S91
|
artikel
|
| 105 |
Diffusion tensor imaging (DTI) findings in children with Pompe disease: Insights into white matter hyperintensities from a longitudinal study
|
Murala, Sireesha
|
|
|
135 |
2 |
p. S87
|
artikel
|
| 106 |
Disease manifestations in mucopolysaccharidoses and their impact on anaesthesia-related complications: A retrospective analysis of 99 patients
|
Ammer, Luise S.
|
|
|
135 |
2 |
p. S17-S18
|
artikel
|
| 107 |
Dissecting Fabry disease biological plasticity using network-based metabolic phenotyping
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Tebani, Abdellah
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135 |
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p. S118
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Distance to expert care for patients with lysosomal disorders enrolled in a real-world data research platform
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Leek, Ashley N.
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135 |
2 |
p. S73
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artikel
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| 109 |
Dual genetic diagnoses in a lysosomal disorders' patient population
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Williams, Kaylee
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135 |
2 |
p. S128
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artikel
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| 110 |
Early clinical phenotype of late-onset Pompe disease: Lessons learned from newborn screening
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Huggins, Erin
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135 |
2 |
p. S57
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artikel
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| 111 |
Early presentation with late-onset Pompe disease genotype due to a genetic modifier: Lessons from newborn screening
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Michl, Emma
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135 |
2 |
p. S83
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artikel
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Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression
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van der Veen, S.J.
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135 |
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p. 163-169
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artikel
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| 113 |
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: A multicentre observational follow-up study of the European Pompe Consortium
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Ditters, Imke A.M.
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135 |
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p. S39
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artikel
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Effect of COVID19 pandemic on Argentinian Fabry and Gaucher patients
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Rozenfeld, Paula A.
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135 |
2 |
p. S106-S107
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artikel
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Effects of enzyme replacement therapy on cardiac function and structure in classic infantile Pompe disease: Up to 22 years of follow-up
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Scheffers, Linda E.
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135 |
2 |
p. S108-S109
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artikel
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| 116 |
Efficacy of an anti-human transferrin receptor antibody-fused N-sulfoglucosamine sulfohydrolase in mucopolysaccharidosis type IIIA mice
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Inoue, Asuka
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135 |
2 |
p. S60
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artikel
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| 117 |
Efficacy of a scAAV9/SUMF1 viral vector for the treatment of multiple sulfatase deficiency
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Presa, Maximiliano
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135 |
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p. S101
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artikel
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| 118 |
Efficacy of gene therapy in a CLN5 sheep model using a dual route of administration supports a first-in-human clinical trial
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Jacobsen, Leslie
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135 |
2 |
p. S62
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artikel
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| 119 |
Efficacy of recombinant human PPT1 enzyme replacement therapy in mouse and sheep models of CLN1 disease
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Nelvagal, Hemanth R.
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135 |
2 |
p. S88
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artikel
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| 120 |
Efficacy of targeted nanoliposomes in reducing globotriaosylceramide (Gb3) accumulation in mouse models of Fabry disease
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Moltó-Abad, Marc
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135 |
2 |
p. S84
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artikel
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| 121 |
Efficient phenotype recovery of MPS IVA fibroblasts after CRISPR/nCas9-mediated genome editing
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Leal, Andrés F.
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135 |
2 |
p. S72
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artikel
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| 122 |
Eliglustat in patients with Gaucher disease previously treated with enzyme replacement therapy: Real-life experience from Israel
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Istaiti, Majdolen
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135 |
2 |
p. S61
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artikel
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| 123 |
ELISAFE: Baseline characteristics from an observational study to evaluate real-world safety of eliglustat in patients with Gaucher disease
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Batsu, Isabela
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135 |
2 |
p. S21-S22
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artikel
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Endoplasmic reticulum stress derives neurodegeneration in the spinal cord of Sandhoff disease mice
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Weaver, Fiona
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135 |
2 |
p. S127
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artikel
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| 125 |
Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II
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Yamazaki, Narutoshi
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135 |
2 |
p. S129
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artikel
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| 126 |
Enhanced transduction and immunophenotyping demonstrates preclinical safety and efficacy of hematopoietic stem cell gene therapy for mucopolysaccharidosis II using an IDS.ApoEII brain targeted therapy
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Ellison, Stuart M.
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135 |
2 |
p. S41
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artikel
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Enzyme replacement therapy (ERT) for MPS IIID
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Chou, Tsui-Fen
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135 |
2 |
p. S31-S32
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artikel
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Enzyme replacement therapy tend to stabilize inflammatory and cardiovascular biomarkers in plasma samples from Fabry disease
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Ortolano, Saida
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135 |
2 |
p. S92
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artikel
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| 129 |
Enzyme replacement with a blood-brain barrier-penetrating antibody-fused alfa-L-iduronidase prevents neurobehavioral performance of mucopolysaccharidosis type I mice
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Morimoto, Hideto
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135 |
2 |
p. S85
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artikel
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| 130 |
Epigenetic changes in fibroblast from patients with mucopolysaccharidoses
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Vargas-López, Viviana
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135 |
2 |
p. S123-S124
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artikel
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| 131 |
Establishing the content validity of the Fabry Disease-Patient Reported Outcome (FD-PRO) for adolescent patients with Fabry disease
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Lyn, Nicole
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135 |
2 |
p. S78
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artikel
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| 132 |
Estimation of health state utility values in Fabry disease using vignette construction and valuation
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Hughes, Derralynn
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135 |
2 |
p. S58
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artikel
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| 133 |
Evaluating the performance of 16 in silico predictors on 22 lysosomal diseases
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Arevalo-Vargas, Isidro
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135 |
2 |
p. S18-S19
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artikel
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Evaluation of neurofilament light chain as a biomarker for mucopolysaccharidosis type IIIB
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Valentine, Bethann N.
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135 |
2 |
p. S122
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artikel
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| 135 |
Expression of misfolded HGSNAT protein aggravates neurological phenotype in mucopolysaccharidosis type IIIC
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Taherzadeh, Mahsa
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135 |
2 |
p. S118
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artikel
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| 136 |
Extensive diagnostic odyssey for a patient with Gaucher disease
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Michl, Emma
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135 |
2 |
p. S82
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artikel
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Ex-vivo autologous stem cell gene therapy for MPS II (Hunter syndrome)
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Horgan, Claire
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135 |
2 |
p. S57
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artikel
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Fabry cardiomyopathy in Finland: A Fabry registry study
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Effati, Paivi Pietila
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135 |
2 |
p. S97-S98
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artikel
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| 139 |
Fabry disease: Effectiveness of interactive case-based online education in improving knowledge and competence in diagnosis
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Rohani-Montez, Christy
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135 |
2 |
p. S106
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artikel
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| 140 |
Fabry disease, symptom burden, health-related quality of life burden and treatment satisfaction
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MacCulloch, Alasdair C.
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135 |
2 |
p. S78
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artikel
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Facilitate by-stander effects by EV-mRNA cargo in AAV gene replacement therapy for treating MPS IIIC
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Bobo, Tierra A.
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135 |
2 |
p. S23-S24
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artikel
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Farber disease clinical impact: Patient reported outcomes as a measure of disease burden
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Mitchell, John
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135 |
2 |
p. S83-S84
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artikel
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| 143 |
FBX-101, an intravenous AAV gene replacement therapy given after infusion of hematopoietic stem cells, extends efficacious dose ranging and corrects disease manifestations in Krabbe disease
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Escolar, Maria L.
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135 |
2 |
p. S42
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artikel
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| 144 |
Fifteen years of the Hunter Outcome Survey (HOS): Real-world insights into the patient population living with mucopolysaccharidosis type II (MPS II)
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Muenzer, Joseph
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135 |
2 |
p. S86
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artikel
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| 145 |
First-in-human phase I/II clinical trial of hematopoietic stem and progenitor cell gene therapy for Hurler syndrome: Favorable safety profile and extensive metabolic correction
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Tucci, Francesca
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135 |
2 |
p. S121-S122
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artikel
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| 146 |
First results from The Spanish Fabry Women Study: A retrospective observational study describing the phenotype of female carrying genetic variants associated to Fabry disease
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Sánchez, Rosario
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135 |
2 |
p. S108
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artikel
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| 147 |
Functional modeling of human lysosomal acid alpha-glucosidase variants
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Zhang, Xiaoli
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135 |
2 |
p. S131
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artikel
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| 148 |
GALC-containing EVs as a tool to deliver ERT agents and treat neuronopathic processes in Krabbe disease
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Edelmann, Mariola
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135 |
2 |
p. S40
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artikel
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| 149 |
Gaucher disease diagnosis using lyso-Gb1 on dry blood spot samples: Seven years of experience
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Dinur, Tama
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135 |
2 |
p. S38-S39
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artikel
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| 150 |
Generation of an induced pluripotent stem cell line from a patient with free sialic acid storage disorder
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Christensen, Chloe L.
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135 |
2 |
p. S32
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artikel
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| 151 |
Generation of therapeutic iduronate-2-sulfatase enzyme using a novel RNA virus vector
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Mashima, Ryuichi
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135 |
2 |
p. S80
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artikel
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Genetic reduction of muscle glycogen is well tolerated in UK Biobank participants
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Homburger, Julian R.
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135 |
2 |
p. S56
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artikel
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| 153 |
Genetic screening of lysosomal disorders: An account of five years' experience with NGS-based resequencing panels
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del Castillo, Francisco J.
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135 |
2 |
p. S36
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artikel
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| 154 |
Genetic testing and awareness campaign for rare movement disorder
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Engel, Patti
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135 |
2 |
p. S41
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artikel
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| 155 |
Genome editing in mucopolysaccharidosis type IVA fibroblasts using CRISPR/Cas9
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Suárez, Diego A.
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135 |
2 |
p. S117
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artikel
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| 156 |
Genome editing on GM2 gangliosidoses fibroblasts using CRISPR/nCas9
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Leal, Andrés F.
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135 |
2 |
p. S72
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artikel
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| 157 |
Genotype/phenotype correlation from mucopolysaccharidosis type I: Hurler, Hurler-Scheie, and Scheie syndromes and the response to enzymatic replacement therapy
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Cerón-Rodriguez, Magdalena
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135 |
2 |
p. S29
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artikel
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| 158 |
Globotriaosylceramide (GL3) accumulation in Fabry podocytes in female patients is progressive with age and associated with podocyte loss and proteinuria
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Najafian, Behzad
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135 |
2 |
p. S87-S88
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artikel
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| 159 |
GM1 content evaluation in fibroblasts for pre-diagnosis and pharmacological management of patients affected by GM1 gangliosidosis
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Calamai, Martino
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135 |
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p. S28
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artikel
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| 160 |
GM2-gangliosidosis patient journey: Results from interviews with late-onset GM2-gangliosidosis patients and frontline treaters show that the lack of disease awareness significantly delays diagnosis
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Lopshire, Mariah C.
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135 |
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p. S76
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artikel
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| 161 |
GOAL-GD: A smartphone application to enhance patient engagement in a real-world study of treatment switching in patients with Gaucher disease type 1
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McCue, Maggie
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135 |
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p. S80-S81
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artikel
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Graft rejection and spontaneous recovery in mucopolysaccharidosis type I post-HSCT
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Church, Heather J.
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135 |
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p. S32-S33
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artikel
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Hamburg iNCL scale: A new tool for the quantitative description of disease progression in infantile CLN1 patients
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Nickel, Miriam
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135 |
2 |
p. S88-S89
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artikel
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Hematopoietic stem cell gene therapy for cystinosis: Updated results from a phase I/II clinical trial
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Cherqui, Stephanie
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135 |
2 |
p. S30
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artikel
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| 165 |
High-resolution cellular and molecular follow up of lysosomal disease patients treated with hematopoietic stem cell lentiviral gene therapy
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Loperfido, Mariana
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135 |
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p. S75-S76
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artikel
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| 166 |
High-risk population screening by differential diagnosis for mucopolysaccharidoses (MPSs)
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Schwarz, Markus
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135 |
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p. S110
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artikel
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High throughput monitoring of safety, potency and stability of gene therapy cell products in lysosomal disease patients
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Biasco, Luca
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135 |
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p. S23
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artikel
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| 168 |
Home-infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials (COMET, NEO-EXT, and Mini-COMET)
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Díaz-Manera, Jordi
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135 |
2 |
p. S38
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artikel
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How complete is our clinical assessment of patients with mucopolysaccharidosis type II in real life? A question from the Hunter Outcome Survey (HOS)
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Amartino, Hernan
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135 |
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p. S17
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artikel
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Identification of a biomarker that differentiates neuronopathic forms of MPS I and MPS II
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Boulos, Nidal
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135 |
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p. S24
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artikel
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Identification of cathepsin D as a potential biomarker of CLN5 function in an early stage potency assay
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Cui, Ruda
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135 |
2 |
p. S33-S34
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artikel
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Identification of circulated biomarkers in Fabry disease patients associated with hypertrophic cardiomyopathy
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Ivanova, Margarita
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135 |
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p. S61
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artikel
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| 173 |
Identification of late-onset GM2 gangliosidoses (LOGG) patients using Optum's de-identified Market Clarity Database
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Rochmann, Camille
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135 |
2 |
p. S105-S106
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artikel
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Identifying barriers for access to care among immigrants living with lysosomal disorders
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Siddharth, Aishwarya
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135 |
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p. S113
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artikel
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| 175 |
Identifying patients with Gaucher disease type 3 (GD3) in the Optum's de-identified Market Clarity Database: A clustering analysis
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Rochmann, Camille
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135 |
2 |
p. S105
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artikel
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Iduronidase-transposed human B lymphocytes correct enzyme deficiency and glycosaminoglycan storage disease in immunodeficient mucopolysaccharidosis type I mice
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Hampe, Christiane S.
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135 |
2 |
p. S53
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artikel
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| 177 |
Immunogenicity of cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease (LOPD): A phase III, randomized study (PROPEL)
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Chien, Yin-Hsiu
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135 |
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p. S30
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artikel
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Implications for neuropsychology assessments in adult mucopolysaccharidosis: A systematic review to inform service development in a large tertiary lysosomal disorders centre
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Stepien, Karolina M.
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135 |
2 |
p. S116
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artikel
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Improving metrics to measure change: Developmental growth scores
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Shapiro, Elsa G.
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135 |
2 |
p. S111-S112
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artikel
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Improving patient identification, inclusion and engagement in research for LDs and other rare CNS conditions (PIE4CNS)
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Martin, Craig
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135 |
2 |
p. S80
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artikel
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Incidental diagnosis of lysosomal diseases by expanded carrier screening and direct-to-consumer genetic testing
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O'Connor, Ian
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135 |
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p. S90
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artikel
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Incorporation of machine learning technologies into the assessment of bone involvement in Gaucher disease
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Roca-Espiau, Mercedes
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135 |
2 |
p. S105
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artikel
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Increased levels of Lyso-Gb1 in dried blood spots in non-Gaucher patients
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Rivas, Dana Velasquez
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135 |
2 |
p. S124
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artikel
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Industry working with rare disease patient advocacy organizations to further the awareness of lentiviral gene therapy clinical studies for Fabry disease and Gaucher disease type 1
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Tress, Alayna
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135 |
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p. S120
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artikel
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Influence of lysosomal diseases on reproductive parameters of animal models
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D'Almeida, Vânia
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135 |
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p. S34-S35
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Initial symptom presentation in young pediatric patients with classic pathogenic variants in the GLA gene: Data from the Fabry MOPPet study
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Laney, Dawn A.
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135 |
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p. S71
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Insights into patients' expectations and treatment preferences based on the patient needs questionnaire: Interim results from the SATIS-Fab study in Fabry disease
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Lidove, Olivier
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135 |
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p. S74
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In silico identification and characterization of potential orthosteric and allosteric pharmacological chaperones of the NAGLU enzyme and evaluation of their chaperone effect in vitro
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Losada, Juan C.
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135 |
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p. S76-S77
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Interim results of Transpher A, a multicentre, single-dose, phase 1/2 clinical trial of ABO-102 investigational gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)
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Flanigan, Kevin M.
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135 |
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p. S43
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Interim 49-week results of a phase 1/2 study of intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II
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Bakardjiev, Anna
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135 |
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p. S20-S21
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Interpreting the pathogenicity of genetic variants in rare diseases: Lessons from Fabry disease
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Germain, Dominique P.
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p. S45
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In utero enzyme replacement therapy in a fetus with infantile-onset Pompe disease
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Cohen, Jennifer L.
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135 |
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p. S33
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Investigation into the pathophysiology of GBA1-associated Parkinson's disease using organelle-specific proteomics
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Chen, Chase
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135 |
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p. S29-S30
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In-vitro characterization of MZE001, an orally active GYS1 inhibitor to treat Pompe disease
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Choy, Rebeca
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135 |
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p. S32
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In vitro evaluation of recombinant enzyme N-acetyl-alpha-glucosaminidase obtained from Komagataella phaffii GS115
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Triana Rojas, Heidy Y.
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135 |
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p. S121
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iPSC derived neurons of mucopolysaccharidosis III patients show pronounced synaptic defects
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Mooree, Travis
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135 |
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p. S85
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Isolation and characterization of a polyclonal human anti-drug antibody as a reference in Fabry disease
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Lenders, Malte
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135 |
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p. S74
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It's a matter of opinion: An exploratory study of parent attitudes towards newborn screening for later-onset and untreatable disorders
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Boychuk, Natalie
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135 |
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p. S24
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Liver-specific AAV gene therapy corrects lipid storage in LAL-D model mice but does not prevent lipid accumulation in acquired fatty liver model mice
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Aaron, Nina A.
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135 |
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p. S15
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Living with Pompe disease in the UK: Characterizing the patient journey and burden on physical, emotional and social quality of life
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Hughes, Derralynn
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135 |
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p. S59
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Long term efficacy and safety of pabinafusp-alfa (JR-141) in Hunter syndrome (MPS-II): 104-week data from the clinical trials in Japan and Brazil
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Giugliani, Roberto
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135 |
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p. S48
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Long-term follow-up in an adult patient with Schindler disease
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Noman, Kinza
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p. S89
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Long term follow up of lymphadenopathy in Egyptian Gaucher disease children and adolescents
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Abdelwahab, Magy
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p. S15
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Long-term hematopoietic stem cell lentiviral gene therapy rescues neuromuscular manifestations in preclinical study of Pompe disease mice
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van Til, Niek P.
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p. S122-S123
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Long-term multisystemic efficacy with migalastat in ERT-naive and ERT-experienced patients with amenable GLA variants
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Hopkin, Robert J.
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p. S56
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Long-term safety and efficacy of pegunigalsidase alfa: A multicenter extension study in adult patients with Fabry disease
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Hughes, Derralynn
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p. S58
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Lyso-Gb3 as a biomarker for renal and cardiac involvement in Fabry disease: An analysis from the Fabry Outcome Survey (FOS)
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Ramaswami, Uma
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p. S103-S104
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Making the case for global carrier screening for Tay-Sachs disease
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Michl, Emma
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p. S83
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M011: A novel highly phosphorylated β-glucocerebrosidase enzyme with broader tissue biodistribution for the treatment of Gaucher disease
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Gotschall, Russell
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p. S50
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Markers of inflammation and alpha degranulation defect of platelets in patients with Gaucher disease
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Revel-Vilk, Shoshana
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p. S104
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Mass spectrometry analysis of the vitreous fluid from a Gaucher disease type 3 patient
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Auray-Blais, Christiane
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p. S20
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M021: A uniquely glycosylated, highly phosphorylated acid-alpha glucosidase enzyme replacement therapy for the treatment of Pompe disease
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Gotschall, Russell
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p. S50
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Measurement of tripeptidyl peptidase 1 activity as a first level test and as a confirmatory test for the diagnosis of neuronal ceroid lipofuscinosis type 2
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Pushkov, Alexander
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p. S102
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Medical information consumption and sharing practices in lysosomal diseases: A clinician perspective
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Rouwette, Tom
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p. S106
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Migalastat HCl 150 mg every other day is well-tolerated and efficacious in adolescent patients with Fabry disease
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Ramaswami, Uma
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Mini-COMET study: Safety, biomarker, and efficacy data after avalglucosidase alfa dosing for ≥ 97 weeks in participants with infantile-onset pompe disease (IOPD) previously treated with alglucosidase alfa who had demonstrated clinical decline
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Kronn, David
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p. S68
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Modeling misfolding of human disease-causing lysosomal enzymes in Drosophila melanogaster as means to test therapeutic modalities
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Braunstein, Hila
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p. S25
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Modeling neuronopathic Gaucher disease with human patient-specific midbrain organoids
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Lin, Yi
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p. S75
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MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment
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Entchev, Eugeni
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p. 143-153
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Mucolipidosis type II growth trajectories and requirement for enteral tube feeding: A single centre review
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Davison, James
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p. S35
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Multicenter, non-interventional, double cohort study to assess the safety of alglucosidase alfa and laronidase in real-world home infusion setting
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Toscano, Antonio
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p. S120
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Natural history of CLN7 disease: Quantitative prospective assessment of disease characteristics and rate of progression
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Schulz, Angela
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p. S109
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Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course
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Seo, JooHyun
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135 |
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p. S111
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Natural history of Gaucher disease: Description of patients followed at a reference center in São Paulo
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Espolaor, Jessica
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p. S42
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Natural history of neurodevelopment in neuronopathic mucopolysaccharidosis type II (MPS II): Mullen Scales of Early Learning (MSEL) cognitive, motor and language developmental trajectories
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Phillips, Dawn
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p. S97
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Neurocognitive development and adaptive behavior in mucolipidosis type II: A retrospective analysis of 11 patients
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Ammer, Luise S.
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p. S18
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Neurocognitive outcome in mucopolysaccharidosis type 1 (Hurler phenotype) post HSCT
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Broomfield, Alexander
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p. S26-S27
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Neurodegenerative role of lysosomal cathepsin B in MPS IIIC
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Pan, Xuefang
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p. S92-S93
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Neurofilament light chain: A potential marker of neurological disease in Gaucher disease
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Terluk, Marcia R.
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p. S118-S119
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Neuropathic and abdominal pain items of the Fabry Disease Patient-Reported Outcome (FD-PRO) show robust measurement properties in treatment naïve Fabry patients
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Lyn, Nicole
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135 |
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p. S77-S78
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Neuroradiological evaluation of Fabry disease patients in follow-up in a reference center before ERT
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Previdi, Felippe R.E.O.
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p. S101
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Newborn screening experience and outcome from a Minnesota Pompe disease consortium
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Pillai, Nishitha R.
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p. S98
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Newborn screening for Fabry disease is useful for early diagnosis of the family members who are affected but are not yet diagnosed
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Musha, Ikuma
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135 |
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p. S87
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Newborn screening for Krabbe disease in Illinois: A single center's experience
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Walsh, Chelsey N.
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135 |
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p. S125-S126
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Newborn screening for lysosomal disorders: The Ohio experience
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Berry, Lisa
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135 |
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p. S23
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Newborn screening for metachromatic leukodystrophy in northern Germany
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Oliva, Petra
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p. S91-S92
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Newborn screening for Pompe disease: The Washington, DC experience
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Grant, Christina L.
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p. S50-S51
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Newborn screening, new metrics: Methods for detecting developmental change in very young children
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Yund, Brianna D.
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135 |
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p. S130
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New severity scale on Fabry disease: Fabry stabilization score (FASTEX) score
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Gómez, Maria Camprodon
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135 |
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p. S28-S29
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NGS-based panel screening of suspected lysosomal disease cases identifies novel pathogenic variants underlying acid sphingomyelinase deficiency (ASMD), Krabbe disease, and lymphatic dysplasia with non-immune hydrops fetalis
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del Castillo, Francisco J.
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135 |
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p. S36
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Niemann-Pick disease type C: A description of patients followed at a reference center in São Paulo - a retrospective study
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Torres, Mateus O.
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135 |
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p. S119-S120
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Novel insight into the compound heterozygosity-driven CLN6 disease pathomechanism
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Shiro, Yuki
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p. S112
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Novel insights into mucopolysaccharidosis type II based on an analysis of genetic variants in 763 patients
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Ayodele, Olulade
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p. S20
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Novel neurological findings in an adult patient with Gaucher disease
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Hagen, Leanne
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135 |
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p. S52
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Onset and evolution of symptoms in CLN8 disease
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Abreu, Nicolas J.
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135 |
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p. S15-S16
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Outcome in infants treated with very early ERT supports newborn screening for mucopolysaccharidosis type II
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Quadri, Allegra
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p. S102
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Outcomes of idursulfase treatment in non-neuropathic mucopolysaccharidosis type II: A family case
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Vashakmadze, Nato
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p. S124
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Outcomes of newborn screening for Krabbe disease and their impact on selecting an effective screening approach
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p. S127-S128
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Overlapping and divergent hepatic and lipoprotein phenotypes in untreated adults with acid sphingomyelinase deficiency versus untreated adults with Gaucher disease from two pivotal clinical trials
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Cassiman, David
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p. S29
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Parental depression and stress associated with newborn screening for complex disorders
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Boychuk, Natalie
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p. S24-S25
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Patient and physician perspectives inform clinical trial design for a single intravenous dose of HMI-203, a gene therapy candidate for adults with mucopolysaccharidosis type II (MPS II, Hunter syndrome)
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Haroldson, Jeffrey
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p. S54-S55
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Patient voice in access studies
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Jackson, Skyler
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p. S61
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Pediatric experience of Fabry patients since the advent of ERT
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Broomfield, Alexander
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p. S27
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Peptide-conjugated phosphorodiamidate morpholino oligomers for the treatment of late-onset Pompe disease
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Oliver, Ryan A.
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p. S92
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Persistent effect of arimoclomol in patients with Niemann-Pick disease type C: 24-month results from an open-label extension of a pivotal phase 2/3 study
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Patterson, Marc
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p. S94
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Pharmacokinetics and biomarker responses in patients with Gaucher disease type 3 or GBA-associated Parkinson's disease treated with venglustat
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Peterschmitt, M. Judith
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p. S96
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Pharmacology of small molecule inhibitors of GYS1 in a mouse model of Pompe disease
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Xi, Yannan
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p. S128
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Phase I/II clinical trial of anakinra in Sanfilippo syndrome: Outcomes from 8 weeks of a palliative treatment
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Polgreen, Lynda E.
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p. S100
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Phase 1/2 open-label, multi-center study to assess the safety, tolerability and efficacy of a single dose of PBGM01 delivered into the cisterna magna of subjects with type 1 (early onset) and type 2a (late onset) infantile GM1 gangliosidosis
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Jarnes, Jeanine R.
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p. S62-S63
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Phase 1/2 trial of AXO-AAV-GM1 (AAV9-GLB1) gene therapy for infantile- and juvenile-onset GM1 gangliosidosis
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Tifft, Cynthia
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p. S119
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Pilot study of novel optokinetic nystagmus-based visual acuity test in children with CLN2 disease
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Ohnsman, Christina
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p. S90
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Pilot study update: Newborn screening for lysosomal disorders in Brazil
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Kubaski, Francyne
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p. S69
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Plasma biomarker profile quantification by tandem mass spectrometry for early detection of Gaucher disease
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Menkovic, Iskren
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p. S82
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Plasma total GAA protein PK profiles differ between cipaglucosidase alfa/miglustat and alglucosidase alfa
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Johnson, Franklin K.
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p. S63
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Possible increased incidence of pathogenic GALC deletions in exons 11–17 causing infantile onset Krabbe disease in individuals from Ahmadabad in the Indian state of Gujarat
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Laney, Dawn A.
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p. S70
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Predictive biological patterns in Gaucher disease revealed by integrative omics-based machine learning analyses
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Preliminary safety data of a phase 1 first in-human clinical trial support the use of high dose intrathecal AAV9/CLN7 for the treatment of patients with CLN7 disease
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Kayani, Saima
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p. S65
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Prenatal diagnosis of mucopolysaccharidosis type VI by analysis of the amniotic fluid supernatant in the mass spectrometry era
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p. S69
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Prevention of murine GM1-gangliosidosis following heterotopic insertion of Glb1 using gene editing
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PR001 gene therapy increased GCase activity and improved Gaucher disease type 1 phenotypes in mouse models
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Sheehan, Patty
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p. S112
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Prime editing corrects the c.1826dupA mutation in infantile-onset Pompe disease
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Rha, Allisandra K.
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p. S104-S105
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Prodromal Parkinsonian features in GBA variant carriers
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Becker-Cohen, Michal
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p. S22
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Profile of disease-specific oligosaccharides in the cerebrospinal fluid of patients with mucopolysaccharidoses
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Kubaski, Francyne
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p. S68-S69
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Progranulin deficiency markedly exacerbates Gaucher disease phenotypes in Gba1 mutant mice
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Zhao, Xiangli
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p. S131
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Project Searchlight Gaucher study design: Real-world evaluation and validation of a rare disease algorithm to identify persons at risk of Gaucher disease using data from electronic health records in the United States
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King, Lisa Sniderman
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p. S114
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Prospective longitudinal study of neurological disease trajectory in children living with late-infantile or juvenile onset of GM1 or GM2 gangliosidosis (PRONTO study)
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Giugliani, Roberto
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p. S47-S48
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Prospective of newborn screening and rare disease diagnostic initiatives in Europe
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Psychosine predicts age of onset in babies with Krabbe disease
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Quality of life and caregiver burden in metachromatic leukodystrophy: Results from a cross-national study of 6 countries
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Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I
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Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I
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Nestrasil, Igor
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Rapid identification of IOPD and early-onset Pompe disease by biochemical enzymatic testing followed by genetic confirmation
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p. S21
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Real-world clinical outcomes of intraventricular cerliponase alfa in CLN2 disease: 4.5-year update from an independent ongoing observational study
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Real-world safety and effectiveness of velaglucerase alfa in pediatric patients with Gaucher disease younger than 4 years of age: A combined retrospective and prospective cohort study
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Göker-Alpan, Ozlem
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Recommendations on the follow-up of patients with Gaucher disease in Spain: Results from a Delphi survey
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p. S46
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RGX-121 gene therapy for the treatment of severe mucopolysaccharidosis type II (MPS II): Interim analysis of data from the first in-human study
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p. S54
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RGX-111 gene therapy for the treatment of severe mucopolysaccharidosis type I (MPS I): Interim analysis of data from the first in-human study
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Wang, Raymond
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p. S126
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Safety of home-based infusion of alglucosidase alfa in late onset Pompe disease: 13 years of experience from the Erasmus MC University Medical Center
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Safety reduction of agalsidase beta infusion time in Fabry disease patients
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Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus
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p. 154-162
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Screenplus: A model for collective funding of pilot newborn screening
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p. S65-S66
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Secondary dysfunction of lysosomal enzymes in Gaucher disease
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Seizures in infantile Pompe disease: Expanding our understanding of the clinical spectrum
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Korlimarla, Aditi
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p. S68
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Serum bone alkaline phosphatase: A biomarker for Gaucher disease
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Severe kidney dysfunction in the mouse model of sialidosis reveals novel role of neuraminidase 1 in reabsorption process
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p. S66
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Sialidosis: From gene editing to gene therapy
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Small molecule characterization as potential therapies for Krabbe disease
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Spanish Fabry and Gaucher disease patients show striking differences in Beliefs about Medicines (BMQ) and Brief Illness Perception (BIPQ) questionnaires
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p. S49
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Spinal cord pathology in murine Sanfilippo syndrome type B
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Storage of GM2 ganglioside and altered gene expression in infantile Tay-Sachs disease during fetal development has implications for therapeutic timing and efficacy
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Han, Sangwoo T.
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p. S53
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Study of neutrophil extracellular traps (NETs) in the development of thrombotic complications in Fabry disease patients
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Subcutaneous nodules as a clinical biomarker of Farber disease
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Substrate reduction therapy for Pompe disease: Small molecule inhibition of glycogen synthase 1 in preclinical models
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Sulfatide accumulation begins as early as four months of age in ARSA knockout mice
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Summary of nonclinical data for gene therapy developmental candidate HMI-203 for mucopolysaccharidosis type II (MPS II, or Hunter syndrome)
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Suppression of anti-alpha-GalA antibody production by blockade of T-cell costimulation in mice
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Sustained and continued improvements in pulmonary function, hepatosplenomegaly, dyslipidemia, and disease biomarkers in 5 adults with chronic acid sphingomyelinase deficiency after 6.5 years of olipudase alfa enzyme replacement therapy
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Symptoms of Fabry disease in adolescents
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Synergistic action of the chemical chaperone 4-phenylbutyrate and the pharmacological chaperone migalastat on restoration of α-galactosidase activity of Fabry G258R mutation
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Dündar, Halil
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Systematic literature review of the clinical effectiveness, safety, quality of life, epidemiology and economic burden associated with cystinosis
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Systemic immune challenges exacerbate inflammation and cognitive decline in a mouse model of MPS IIIA
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Table of Contents
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Take him home and love him: The experiences of families with Hunter syndrome at home.
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Tenascin C down regulation in a neuron model of Fabry disease
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The avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients: Efficacy and safety results after 97 weeks
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Kishnani, Priya
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The Boston Children's Hospital (BCH) four year experience with the Massachusetts State Newborn Screening (NBS) pilot program for mucopolysaccharidosis type I (MPS I), Pompe disease, and X-linked adrenoleukodystrophy(X-ALD): Lessons learned
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Al-Hertani, Walla
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The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system
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The cost-effectiveness of atidarsagene autotemcel for the treatment of metachromatic leukodystrophy in France
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The effect of intrathecal recombinant arylsulfatase A therapy on demyelination load in children with metachromatic leukodystrophy
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The expanded neuronal ceroid lipofuscinosis 2 (CLN2) clinical rating scale for motor and language function: Development and inter-rater reliability
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The expression and secretion profile of TRAP5 isomers correlate with bone involvement in Gaucher disease
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The getting global rare disease insights through technology (GRIT) study: Patient activation and pain management through a digital app for patients with metabolic genetic disease
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| 324 |
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| 325 |
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| 326 |
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| 327 |
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| 328 |
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| 329 |
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| 330 |
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| 331 |
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| 332 |
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| 333 |
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| 334 |
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| 335 |
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| 336 |
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| 337 |
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| 338 |
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| 339 |
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135 |
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p. S64
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| 340 |
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| 341 |
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| 342 |
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| 344 |
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| 345 |
WORLDSymposium™ 2022 Abstract Keyword Index
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| 346 |
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| 350 |
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