| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
AAV9-hARSA decreases sulfatide accumulation in the aged ARSA −/− mouse model for metachromatic leukodystrophy
|
Newman, Stephanie K.
|
|
|
132 |
2 |
p. S76-S77
|
artikel
|
| 2 |
A comprehensive analysis of rare diseases in China through questionnaire and interviews
|
Zhang, Xiangyu
|
|
|
132 |
2 |
p. S115
|
artikel
|
| 3 |
Acute pancreatitis complicating a case of pediatric Wilson's disease*
|
Mahir, Nahid
|
|
|
132 |
2 |
p. S68
|
artikel
|
| 4 |
A decade of molecular diagnosis of mucolipidosis II and III in Brazil: A pooled analysis of 32 patients
|
Schwartz, Ida V.D.
|
|
|
132 |
2 |
p. S97
|
artikel
|
| 5 |
A disease progression model for trials in mucopolysaccharidosis type IIIA
|
Marion, Joe
|
|
|
132 |
2 |
p. S69
|
artikel
|
| 6 |
Adults with chronic acid sphingomyelinase deficiency show significant visceral, pulmonary, and hematologic improvements after enzyme replacement therapy with olipudase-alfa: 1-year results of the ASCEND placebo-controlled trial
|
Wasserstein, Melissa
|
|
|
132 |
2 |
p. S110
|
artikel
|
| 7 |
A longitudinal report of neurocognitive abnormalities and their impact on quality of life in non-neuronopathic MPS II
|
Yund, Brianna D.
|
|
|
132 |
2 |
p. S115
|
artikel
|
| 8 |
A meta-analysis of enzyme replacement therapy in late-onset Pompe disease
|
Junges, Ana Paula Pedroso
|
|
|
132 |
2 |
p. S84
|
artikel
|
| 9 |
An affordable combined method to achieve a confirming diagnosis of metachromatic leukodystrophy
|
Hammoud, Miloud
|
|
|
132 |
2 |
p. S46
|
artikel
|
| 10 |
An algorithm for early diagnosis of mucopolysaccharidosis types IIIA and B
|
Oh, Loreanne S.
|
|
|
132 |
2 |
p. S77
|
artikel
|
| 11 |
Analysis of genetically engineered stem cell product and follow up of gene therapy patients through high-throughput single cell technologies
|
Baricordi, Cristina
|
|
|
132 |
2 |
p. S18
|
artikel
|
| 12 |
Analysis of parent perception of newborn screening for lysosomal disorders
|
Lahr, Ashley
|
|
|
132 |
2 |
p. S61-S62
|
artikel
|
| 13 |
A new initiative to tackle childhood dementia
|
Elvidge, Kristina L.
|
|
|
132 |
2 |
p. S37-S38
|
artikel
|
| 14 |
A novel nonsense LAMP2 variant associated with Danon disease in a pediatric male: A case report
|
Castillo-Garcia, Daniela
|
|
|
132 |
2 |
p. S23
|
artikel
|
| 15 |
Aparito's six year journey in lysosomal disorders
|
Lewi, Daniel
|
|
|
132 |
2 |
p. S63-S64
|
artikel
|
| 16 |
A perspective on research, diagnosis, and management of lysosomal disorders in Colombia: An update
|
Puentes-Tellez, Maria Alejandra
|
|
|
132 |
2 |
p. S88
|
artikel
|
| 17 |
A phase I/II multicenter gene therapy clinical study for Fabry disease
|
Ganesh, Jaya
|
|
|
132 |
2 |
p. S41-S42
|
artikel
|
| 18 |
A phase I/II open-label gene replacement clinical study for late onset Pompe disease
|
Day, John W.
|
|
|
132 |
2 |
p. S32
|
artikel
|
| 19 |
Appraisal of the use of FASTEX in clinical practice in the All Wales Inherited Metabolic Disease Service
|
Bulleid, Lindsey
|
|
|
132 |
2 |
p. S21
|
artikel
|
| 20 |
A qualitative study of the experience of venglustat for patients with Gaucher disease type 3 (GD3) in LEAP: A phase II open-label, multicenter, multinational study
|
Rochmann, Camille
|
|
|
132 |
2 |
p. S91
|
artikel
|
| 21 |
Assessing paediatric feeding in lysosomal diseases using remote smartphone video technology
|
Davies, Elin Haf
|
|
|
132 |
2 |
p. S31
|
artikel
|
| 22 |
Assessment and management of tracheomalacia in adult mucopolysaccharidosis type II: A case report
|
Gadepalli, Chaitanya
|
|
|
132 |
2 |
p. S40-S41
|
artikel
|
| 23 |
Assessment and outcomes of MPS patients having corneal transplantation
|
Ashworth, Jane
|
|
|
132 |
2 |
p. S16-S17
|
artikel
|
| 24 |
Assessment of cognitive development in patients with neuronopathic mucopolysaccharidosis type II treated with intrathecal idursulfase-IT using Projected Retained Ability Score (PRAS): A post hoc analysis
|
Yee, Karen S.
|
|
|
132 |
2 |
p. S114
|
artikel
|
| 25 |
A survey of statistical study design and analysis methods for rare disease development programs
|
Stepanians, Miganush
|
|
|
132 |
2 |
p. S103
|
artikel
|
| 26 |
A tractography tool that detects abnormalities in function in early metachromatic leukodystrophy
|
Glanzman, Jason
|
|
|
132 |
2 |
p. S44-S45
|
artikel
|
| 27 |
AVR-RD-01, an investigational lentiviral gene therapy for Fabry disease: Overview of clinical data from phase 1 and phase 2 studies
|
Thomas, Mark
|
|
|
132 |
2 |
p. S106
|
artikel
|
| 28 |
Base editing of the N370S mutation in Gaucher disease skin fibroblasts
|
Christensen, Chloe
|
|
|
132 |
2 |
p. S26
|
artikel
|
| 29 |
Biochemical predictors of neurocognitive outcomes in Hurler syndrome
|
Lund, Troy
|
|
|
132 |
2 |
p. S68
|
artikel
|
| 30 |
Brazilian patients with Gaucher disease: Haplotype analysis
|
Schwartz, Ida V.D.
|
|
|
132 |
2 |
p. S97
|
artikel
|
| 31 |
Burden of illness of Fabry disease: A retrospective claims analysis of a German sickness fund database
|
Hilz, Max J.
|
|
|
132 |
2 |
p. S49
|
artikel
|
| 32 |
Busulfan conditioning allows high engraftment of human genome edited hematopoietic stem cells and improved central nervous system correction in a mucopolysaccharidosis type I mouse model
|
Poletto, Edina
|
|
|
132 |
2 |
p. S87
|
artikel
|
| 33 |
Canadian Fabry disease registry study group: Report on the A143P Nova Scotia genotype
|
West, Michael L.
|
|
|
132 |
2 |
p. S111
|
artikel
|
| 34 |
Cardiac surgical interventions in MPS I and VI patients in adulthood
|
Stepien, Karolina M.
|
|
|
132 |
2 |
p. S104
|
artikel
|
| 35 |
Caregiver experiences of intrathecal idursulfase-IT treatment in pediatric patients with neuronopathic mucopolysaccharidosis type II
|
Yee, Karen S.
|
|
|
132 |
2 |
p. S114-S115
|
artikel
|
| 36 |
Caring for the caregivers: Sensory solutions to CTSD (Chronic Traumatic Stress Disorder)
|
O'Loughlin, Cristol
|
|
|
132 |
2 |
p. S79-S80
|
artikel
|
| 37 |
Case report: Neurologic outcome after stem cell transplant in a patient with neuronopathic Gaucher disease
|
Kim, Aram
|
|
|
132 |
2 |
p. S55
|
artikel
|
| 38 |
Cerliponase alfa for the treatment of CLN2 disease in a patient cohort including children younger than three years: Interim results from an ongoing clinical study
|
Schulz, Angela
|
|
|
132 |
2 |
p. S95
|
artikel
|
| 39 |
Characterization of 4 L/PS-NA mice for cytokine activity and neurodegeneration
|
Loeffler, Tina
|
|
|
132 |
2 |
p. S65-S66
|
artikel
|
| 40 |
Characterization of surgical procedures in patients with mucopolysaccharidosis
|
Camprodon, M.
|
|
|
132 |
2 |
p. S22
|
artikel
|
| 41 |
Characterizing expressive language skills in children with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2): The caregiver perspective
|
Phillips, Dawn
|
|
|
132 |
2 |
p. S86
|
artikel
|
| 42 |
Characterizing visual function in children with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2): The caregiver perspective
|
Phillips, Dawn
|
|
|
132 |
2 |
p. S86
|
artikel
|
| 43 |
Chelating effect of flax seed extract in rats overloaded with chondroitin sulfate: A new path in substrate reduction therapy for mucoplysccharidosis
|
Sabir, Es-said
|
|
|
132 |
2 |
p. S93
|
artikel
|
| 44 |
Children treated with olipudase alfa for chronic acid sphingomyelinase deficiency show meaningful improvement on clinically relevant outcomes and an overall favorable safety profile: 1-year results of the ASCEND-Peds trial
|
Diaz, George A.
|
|
|
132 |
2 |
p. S33-S34
|
artikel
|
| 45 |
Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease
|
Ferreira, Carlos R.
|
|
|
132 |
2 |
p. 112-118
|
artikel
|
| 46 |
Clinical and numerical presentation of neurocognitive assessments for MPS II patients using the Bayley Scales of Infant Development- version 3 (BSID-III)
|
Cho, Yoonjin
|
|
|
132 |
2 |
p. S25
|
artikel
|
| 47 |
Clinical characteristics and journey to diagnosis in patients with mucopolysaccharidosis type VII
|
Sivri, Hatice Serap
|
|
|
132 |
2 |
p. S101-S102
|
artikel
|
| 48 |
Clinical characterization and therapy discussion of the p.Asp313Tyr variant in GLA
|
Dumke, Christina
|
|
|
132 |
2 |
p. S35
|
artikel
|
| 49 |
Clinical course of patients with Gaucher-associated Parkinson disease
|
Iverson, Ayuko
|
|
|
132 |
2 |
p. S51
|
artikel
|
| 50 |
Clinical impact of orally delivered alpha-galactosidase A on gastrointestinal symptoms in patients with Fabry disease
|
Lenders, Malte
|
|
|
132 |
2 |
p. S63
|
artikel
|
| 51 |
Clinical outcomes in an adult patient with alpha-mannosidosis treated with velmanase alfa for 5 years
|
Cole, Duncan Sean
|
|
|
132 |
2 |
p. S27
|
artikel
|
| 52 |
Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: Results from 4246 tests
|
Pang, Tiffany
|
|
|
132 |
2 |
p. S82
|
artikel
|
| 53 |
Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: Results from 850 tests
|
Seratti, Guillermo
|
|
|
132 |
2 |
p. S98
|
artikel
|
| 54 |
CNS-targeting exosomes: A strategy to treat neurological lysosomal disorders
|
Santelices, John
|
|
|
132 |
2 |
p. S94
|
artikel
|
| 55 |
Co-creating a gene therapy clinical trial with GM2 gangliosidosis caregivers: A virtual approach to patient engagement
|
Phillips, Kristin LaBounty
|
|
|
132 |
2 |
p. S61
|
artikel
|
| 56 |
Comparative systemic and neurologic effectiveness of intravenous and intrathecal AAV9 delivered individually or combined in a murine model of mucopolysaccharidosis type I
|
Belur, Lalitha
|
|
|
132 |
2 |
p. S19-S20
|
artikel
|
| 57 |
Comparing developmental outcomes of children with CLN2 disease receiving cerliponase alfa to a natural history cohort
|
Scherr, Jessica
|
|
|
132 |
2 |
p. S94-S95
|
artikel
|
| 58 |
Comparison of cognitive function in siblings with neuronopathic mucopolysaccharidosis type II: Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT
|
Muenzer, Joseph
|
|
|
132 |
2 |
p. S73
|
artikel
|
| 59 |
Comparison of long-term outcomes for survivors among hematopoietic stem cell transplant subjects using the Living Independently Study Assessment (LISA 2.0)
|
Kimball, Brittany C.
|
|
|
132 |
2 |
p. S56
|
artikel
|
| 60 |
Cover 2 / Ed. Board
|
|
|
|
132 |
2 |
p. IFC
|
artikel
|
| 61 |
COVID-19 pandemic impact on Brazilian patients with lysosomal diseases: A patient's perspective
|
Schwartz, Ida V.D.
|
|
|
132 |
2 |
p. S97-S98
|
artikel
|
| 62 |
COVID-19 patient impact: A survey of the Gaucher community involving patients, caregivers and family members based in the US to determine impact of the pandemic
|
Ryan, Emory
|
|
|
132 |
2 |
p. S93
|
artikel
|
| 63 |
Decentralised convenience: Digitised clinical assessment for impaired ambulation
|
Davies, Elin Haf
|
|
|
132 |
2 |
p. S30-S31
|
artikel
|
| 64 |
DeepGestalt as a potential novel method to help discriminate between the Gaucher disease subtypes
|
Daykin, Emily
|
|
|
132 |
2 |
p. S32
|
artikel
|
| 65 |
Demographic and clinical characteristics of patients with metachromatic leukodystrophy in the United Kingdom: Interim results from an observational real-world study
|
Jones, Simon
|
|
|
132 |
2 |
p. S53
|
artikel
|
| 66 |
Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis
|
Maclean, Kenneth N.
|
|
|
132 |
2 |
p. 128-138
|
artikel
|
| 67 |
Design and preliminary results of a first-in-human, 24-week study of intravenous DNL310 (brain-penetrant IDS) in MPS II
|
Harmatz, Paul
|
|
|
132 |
2 |
p. S47
|
artikel
|
| 68 |
Development and evaluation of a nurse-led Anderson-Fabry clinic in Wales
|
Daniel, Amanda
|
|
|
132 |
2 |
p. S30
|
artikel
|
| 69 |
Development of a Fabry disease screening tool for chronic pain patients - step 1: Categorization based on phenotypic risk profiles
|
Ueberall, Michael A.
|
|
|
132 |
2 |
p. S107
|
artikel
|
| 70 |
Development of a gene therapy for Fabry disease using adeno-associated viral vector mediated gene editing
|
Niu, Dau-Ming
|
|
|
132 |
2 |
p. S77
|
artikel
|
| 71 |
Development of a GLA nAb assay with a fully-human, neutralizing IgG4 positive control to characterize antibody response in Fabry disease patients
|
Ravi, Sujata
|
|
|
132 |
2 |
p. S90-S91
|
artikel
|
| 72 |
Development of a novel encapsulated non-viral cell-based therapy for MPS VI
|
Pearson, Erika
|
|
|
132 |
2 |
p. S83-S84
|
artikel
|
| 73 |
Development of a novel gene therapy for Fabry disease: Engineered alpha-galactosidase A transgene for improved stability
|
Willer, Tobias
|
|
|
132 |
2 |
p. S113
|
artikel
|
| 74 |
Devising effective enzyme replacement therapy for infantile onset neuronal ceroid lipofuscinosis (CLN1 disease)
|
Cooper, Jonathan D.
|
|
|
132 |
2 |
p. S28
|
artikel
|
| 75 |
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes
|
Daykin, Emily C.
|
|
|
132 |
2 |
p. 49-58
|
artikel
|
| 76 |
Diagnostic confidence for CLN3 disease
|
Masten, Margaux C.
|
|
|
132 |
2 |
p. S70
|
artikel
|
| 77 |
Diagnostic yield and clinical utility of genetic testing in children with seizure onset after two years of age: Update over 2 1/2-year program in Europe and the Middle East
|
Singh, Akashdeep
|
|
|
132 |
2 |
p. S100-S101
|
artikel
|
| 78 |
Direct intercellular cross-correction of α-galactosidase-A deficiency in Fabry disease podocytes through tunneling nanotubes in a mixed cell culture model
|
Najafian, Behzad
|
|
|
132 |
2 |
p. S75
|
artikel
|
| 79 |
Disease characteristics, early effectiveness, and safety of vestronidase alfa for the treatment of mucopolysaccharidosis type VII (MPS VII) assessed in a novel, longitudinal, multicenter Disease Monitoring Program (DMP)
|
Lau, Heather
|
|
|
132 |
2 |
p. S63
|
artikel
|
| 80 |
Does extending enzyme replacement therapy after transplant provide neurocognitive benefit in Hurler syndrome?
|
Gimbel, Blake
|
|
|
132 |
2 |
p. S43
|
artikel
|
| 81 |
Drug delivery across the blood-brain barrier and resultant reduction of heparan sulfate in the cerebrospinal fluid in the patients with Hunter syndrome (MPS II): An integrated analysis of 25-week Japanese and Brazilian data on pabinafusp alfa (JR-141)
|
Okuyama, Torayuki
|
|
|
132 |
2 |
p. S78
|
artikel
|
| 82 |
Dual therapy with migalastat and agalsidase-beta in a patient with Fabry disease with progressing hypertrophic cardiomyopathy
|
Stauffer, Chanan
|
|
|
132 |
2 |
p. S103
|
artikel
|
| 83 |
Early diagnosis and treatment of infantile-onset Pompe disease via newborn screen
|
Cohen, Jennifer L.
|
|
|
132 |
2 |
p. S26-S27
|
artikel
|
| 84 |
Effect of supraphysiological alpha-L-iduronidase (IDUA) expression on skeletal manifestations in mucopolysaccharidosis type I (MPS I) mice following ex vivo lentiviral vector transduction of hematopoietic stem cells
|
Lund, Troy C.
|
|
|
132 |
2 |
p. S67-S68
|
artikel
|
| 85 |
Effect of velmanase alfa (human recombinant alpha-mannosidase) enzyme-replacement therapy on quality of life and disease burden of patients with alpha-mannosidosis: Results from caregiver feedback
|
Lund, Allan
|
|
|
132 |
2 |
p. S67
|
artikel
|
| 86 |
Effects of acid sphingomyelinase deficiency on oral health and craniofacial development
|
Bender, Claubia Viegas
|
|
|
132 |
2 |
p. S20
|
artikel
|
| 87 |
Efficacy and safety results of the avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients
|
Kishnani, Priya S.
|
|
|
132 |
2 |
p. S57
|
artikel
|
| 88 |
Engineering α-glucosidase to improve protein stability and cellular uptake for the potential treatment of Pompe disease
|
Botham, Rachel C.
|
|
|
132 |
2 |
p. S20-S21
|
artikel
|
| 89 |
Enzyme replacement therapy treatment patterns and patient outcomes in late-onset Pompe disease
|
Kurashige, Ian
|
|
|
132 |
2 |
p. S60-S61
|
artikel
|
| 90 |
Epidemiology and access to expert care for the neuronal ceroid lipofuscinoses (NCLs)
|
Masten, Margaux C.
|
|
|
132 |
2 |
p. S69
|
artikel
|
| 91 |
Evaluation of algorithms to identify patients with Fabry disease using routinely collected hospital activity data
|
Evison, Felicity
|
|
|
132 |
2 |
p. S38
|
artikel
|
| 92 |
Evaluation of CD45 positive cells in the brain and liver of NPC1 −/− mice
|
Daurer, Magdalena
|
|
|
132 |
2 |
p. S30
|
artikel
|
| 93 |
Evaluation of fluid biomarkers reveals lysosome dysfunction and neurodegeneration in neuronopathic MPS II patients
|
Bhalla, Akhil
|
|
|
132 |
2 |
p. S20
|
artikel
|
| 94 |
Evaluation of 2 patients with alpha-mannosidosis and history of conductive hearing impairment participating in a placebo-controlled, phase 3 program receiving velmanase alfa (human recombinant alpha-mannosidase)
|
Lund, Allan
|
|
|
132 |
2 |
p. S67
|
artikel
|
| 95 |
Evaluation of the effectiveness of hematopoietic stem cell transplantation in multiple sulfatase deficiency
|
Pillai, Nishitha R.
|
|
|
132 |
2 |
p. S87
|
artikel
|
| 96 |
Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis
|
Przybilla, Michael
|
|
|
132 |
2 |
p. S88
|
artikel
|
| 97 |
Exploration of the efficacy of pabinafusp-alfa (JR-141) on neurocognitive development in Hunter syndrome (MPS II): 52-week data from clinical trials in Japan and Brazil
|
Giugliani, Roberto
|
|
|
132 |
2 |
p. S43-S44
|
artikel
|
| 98 |
Exploration of the role of whole exome sequencing variants in GBA1-associated Parkinson disease
|
Woo, Elizabeth Geena
|
|
|
132 |
2 |
p. S113
|
artikel
|
| 99 |
Ex-vivo autologous stem cell gene therapy clinical trial for mucopolysaccharidosis type IIIA: Update on phase I/II clinical trial
|
Kinsella, Jane Louise
|
|
|
132 |
2 |
p. S56-S57
|
artikel
|
| 100 |
Ex vivo hematopoietic stem cell gene therapy for mucopolysaccharidosis type I (Hurler syndrome)
|
Gentner, Bernhard
|
|
|
132 |
2 |
p. S42-S43
|
artikel
|
| 101 |
Ex vivo lentiviral transduction of hematopoietic stem cells in mucopolysaccharidosis type II (MPS II) mice achieves high levels of systemic iduronate-2-sulfatase (IDS) enzyme activity and normalization of glycosaminoglycans (GAGs)
|
Smith, Miles C.
|
|
|
132 |
2 |
p. S102
|
artikel
|
| 102 |
Fabry disease and COVID-19: International expert recommendations for management based on real-world experience
|
Laney, Dawn A.
|
|
|
132 |
2 |
p. S62
|
artikel
|
| 103 |
Fabry disease as a cause of myocardial infarction
|
Figueroa-Sauceda, Sergio R.
|
|
|
132 |
2 |
p. S39
|
artikel
|
| 104 |
Fabry Outcome Survey (FOS): Highlights from a 20-year patient registry of Fabry disease
|
Beck, Michael
|
|
|
132 |
2 |
p. S19
|
artikel
|
| 105 |
Female child with Fabry disease and two other genetic diseases, spherocytosis, and congenital hypothyroidism, A case report
|
Cerón-Rodriguez, Magdalena
|
|
|
132 |
2 |
p. S24
|
artikel
|
| 106 |
First experience of switching from enzyme replacement therapy to oral chaperone migalastat for treating Fabry disease in Korea
|
Cheon, Chong Kun
|
|
|
132 |
2 |
p. S24-S25
|
artikel
|
| 107 |
First in-human intracisternal dosing of RGX-111 (adeno-associated virus 9/human α-L-iduronidase) for a 20-month-old child with mucopolysaccharidosis type I (MPS I): 1 year follow-up
|
Wang, Raymond Y.
|
|
|
132 |
2 |
p. S110
|
artikel
|
| 108 |
First MPS case in Kingdom of Eswatini
|
Chu, Tzu-Hung
|
|
|
132 |
2 |
p. S26
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artikel
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FLT201: An AAV-mediated gene therapy for type 1 Gaucher disease designed to target difficult to reach tissues
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Corbau, Romuald
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132 |
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p. S28-S29
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Functional analysis and clinical curation of human acid alpha glucosidase (GAA) variants of unknown significance (VUS) screened from infants diagnosed with Pompe disease via newborn screening (NBS)
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Goomber, Shelly
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132 |
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p. S45
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Functional connectivity alterations in MPS I mouse brain at the laminar level revealed by resting-state fMRI
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Zhu, Wei
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132 |
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Gathering evidence for newborn screening for Niemann-Pick disease type C.
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Andrews, Pam Crowley
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132 |
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p. S15-S16
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Gaucher disease and SARS-CoV-2 infection: Experience from 181 patients in New York
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Fierro, Luca
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132 |
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p. S39
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Gaucher disease: Basic and translational science needs for more complete therapy and management
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Grabowski, Gregory A.
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p. 59-75
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Gaucher disease mesenchymal stem cells showed reduced osteogenesis and increased osteoclastogenesis and adipogenesis
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Rozenfeld, Paula
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132 |
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p. S92
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Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment
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Weinreb, Neal J.
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132 |
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p. 100-111
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Generating pluripotent stem-cell derived organoids to model Gaucher disease type 2
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Sam, Richard
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132 |
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p. S94
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artikel
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| 118 |
Generation of β-Glucocerebrosidase variants with increased half-life in human plasma for liver directed AAV gene therapy aimed at the treatment of Gaucher disease type 1
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Comper, Fabrizio
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132 |
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p. S27-S28
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artikel
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Genotype-phenotype associations in CLN3 disease
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Masten, Margaux C.
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132 |
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p. S69-S70
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Genotype-phenotype correlation of MPS II: A meta-analysis
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Tan, Xinze
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132 |
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p. S105
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artikel
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Genotype-phenotype findings in patients with mucopolysaccharidosis type II (MPS II): Data from the Hunter Outcome Survey
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Muenzer, Joseph
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132 |
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p. S74-S75
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artikel
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Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains
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Leandro, João
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132 |
2 |
p. 139-145
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artikel
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| 123 |
Glycogen accumulation in smooth muscle in the Pompe disease mouse
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McCall, Angela L.
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132 |
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p. S70
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artikel
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Growth patterns in subjects with mucopolysaccharidosis type VII
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Montano, Adriana M.
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132 |
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p. S72
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artikel
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| 125 |
Health-related quality of life in metachromatic leukodystrophy based on a societal utility study in the UK
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Pang, Francis
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132 |
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p. S81-S82
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artikel
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| 126 |
Hearing loss in Fabry disease: A 16 year follow-up study of the Danish nationwide cohort
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Yazdanfard, Puriya Daniel Würtz
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132 |
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p. S114
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artikel
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| 127 |
Hematologic malignancies and monoclonal gammopathy of undetermined significance in Gaucher disease type 1 patients in the International Collaborative Gaucher Group Gaucher Registry
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Rosenbloom, Barry
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132 |
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p. S91-S92
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artikel
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| 128 |
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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132 |
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p. S25
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artikel
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| 129 |
HMI-202: A gene therapy development candidate for metachromatic leukodystrophy (MLD)
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Gingras, Jacinthe
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132 |
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p. S43
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artikel
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| 130 |
HMI-203: Investigational gene therapy for mucopolysaccharidosis type II (MPS II), or Hunter syndrome
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Patel, Kruti
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132 |
2 |
p. S82
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artikel
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| 131 |
Home treatment for lysosomal diseases during COVID-19: German experience
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Karabul, Nesrin
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132 |
2 |
p. S54
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artikel
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| 132 |
Human induced pluripotent stem cell models for CLN6
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Pierson, Tyler Mark
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132 |
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p. S86-S87
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artikel
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Hydroxychloroquine use and toxicity in patients with Fabry disease: A case series
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Kapoor, Sanjana
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132 |
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p. S54
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artikel
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IdeS: An enabling technology to overcome the limitation of neutralizing antibodies to AAV gene therapy
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Alexander, Jeffrey M.
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132 |
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p. S14
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artikel
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Iduronate-2-sulfatase transport vehicle rescues neurobehavioral and skeletal phenotypes in a mouse model of mucopolysaccharidosis type II
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Arguello, Annie
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132 |
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p. S16
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Immunogenicity, genotoxicity, and efficacy of PS gene editing in treating MPS I mice
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Ou, Li
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132 |
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p. S81
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artikel
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| 137 |
Immunosuppression with bortezomib and anti-CD20 mAb is effective in reducing neutralizing antibodies to allow repeated AAV administration in mice
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Choi, Su Jin
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132 |
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p. S25-S26
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artikel
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Impact of COVID-19 on treatment and follow-up in patients with selected lysosomal diseases in a Brazilian center
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Schwartz, Ida V.D.
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132 |
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p. S98
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artikel
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| 139 |
Impact of long-term enzyme replacement therapy on Lyso-Gb1 in patients with Gaucher disease: Comparison between 3 enzymatic formulations
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Dinur, Tama
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132 |
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p. S34-S35
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artikel
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| 140 |
Impact of SARS-CoV-2 infection on Gaucher disease patients in Italy
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Cappellini, Maria Domenica
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132 |
2 |
p. S22-S23
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artikel
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Impact of SARS-CoV-2 on patients with lysosomal diseases in a major NYC hospital system
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Lau, Heather A.
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132 |
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p. S62
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artikel
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| 142 |
Impact of SARS-CoV-2 pandemic on the care for patients with lysosomal disorders: The experience of a Mexican pediatric center
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Acosta-Rodriguez-Bueno, Carlos Patricio
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132 |
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p. S13
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artikel
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Impact of SARS-CoV-2 pandemic on the first Spanish national domiciliary enzymatic infusion strategy for lysosomal diseases
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Peris, Jorge
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132 |
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p. S84-S85
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artikel
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| 144 |
Impacts and burden of Niemann-Pick disease type C: A patient and caregiver perspective
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Mengel, Eugen
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132 |
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p. S71
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artikel
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| 145 |
Increased sulfatide disrupt mitochondrial function in Schwann and mesenchymal stromal cells in metachromatic leukodystrophy
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Gannavarapu, Srinitya
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132 |
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p. S42
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artikel
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| 146 |
Informing patients with rare diseases about COVID-19: Creation of the “Beto and the Coronavirus” booklet
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Wilke, Matheus V.
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132 |
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p. S112
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artikel
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Initial signs and symptoms of metachromatic leukodystrophy: A caregiver perspective
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Eichler, Florian
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132 |
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p. S36
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artikel
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| 148 |
International Niemann-Pick Disease Registry: Establishing worldwide inclusivity
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Imrie, Jackie
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132 |
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p. S51
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artikel
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Intracisternal administration of AAV9 gene therapies to target the central nervous system
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Pukenas, Bryan
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132 |
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p. S89
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artikel
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| 150 |
In utero enzyme replacement therapy in fetuses with lysosomal diseases: A phase I clinical trial
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Schwab, Marisa E.
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132 |
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p. S96
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artikel
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| 151 |
Invariant natural killer T cell-mediated cytokine secretion is a potential biomarker to monitor the efficacy of treatment for Fabry disease
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Gwalani, Lavesh
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132 |
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p. S46
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artikel
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iPSC-derived human neural stem cells engraft in the brains of immunocompromised MPS I mice
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Kan, Shih-hsin
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132 |
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p. S53-S54
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artikel
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Joint contractures and clonus as main indications for botulinum injections in adult patients with mucopolysaccharidoses: One centre experience
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Oldham, Andrew
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132 |
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p. S79
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artikel
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KrabbeConnect patient journey map
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Rugari, Anne
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132 |
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p. S92
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artikel
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| 155 |
Lentiviral haematopoietic stem cell gene therapy for metachromatic leukodystrophy: Results in nine patients treated with a cryopreserved formulation of OTL-200
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Calbi, Valeria
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132 |
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p. S21-S22
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artikel
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| 156 |
Lentiviral hematopoietic stem and progenitor cell gene therapy provides durable clinical benefit in early-symptomatic early-juvenile metachromatic leukodystrophy
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Fumagalli, Francesca
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132 |
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p. S40
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artikel
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| 157 |
Liver steatosis is highly prevalent and is associated with metabolic risk factors and liver fibrosis in adult patients with type 1 Gaucher disease
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Carubbi, Francesca
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132 |
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p. S23
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artikel
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| 158 |
Living with and managing the behavioral complications of mucopolysaccharidosis
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Grant, Nathan
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132 |
2 |
p. S45
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artikel
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| 159 |
Long-term hematopoietic stem cell gene therapy corrects neuromuscular manifestations in preclinical study of Pompe mice
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van Til, Niek P.
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132 |
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p. S107
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artikel
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| 160 |
Long-term outcomes in adult patients affected with fucosidosis: Psychosis as a new complication
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Stepien, Karolina M.
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132 |
2 |
p. S103
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artikel
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| 161 |
Long-term outcomes of patients with mucopolysaccharidosis type VI treated with galsulfase enzyme replacement therapy since infancy
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Johnson, JoAnn
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132 |
2 |
p. S52-S53
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| 162 |
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis
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Waisbren, Susan
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132 |
2 |
p. 119-127
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artikel
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| 163 |
Long-term safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis type II: 2-year results from a phase 2/3 extension study
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Muenzer, Joseph
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132 |
2 |
p. S73-S74
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artikel
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| 164 |
Long-term treatment of Gaucher disease with velaglucerase alfa in a cohort of patients from Paraguay
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Mehta, Atul
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132 |
2 |
p. S70-S71
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artikel
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Long-term treatment with migalastat 150 mg every other day is associated with sustained cardiac efficacy and is well tolerated
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Feldt-Rasmussen, Ulla
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132 |
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p. S38
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artikel
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Lyso Gb3 and Gb3 analogues in Fabry disease patients with A143P genotype: A cross-sectional analysis by the CFDR study group
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West, Michael L.
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132 |
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p. S111
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Lyso-Gb1 levels in sisters with Gaucher disease type 1: A case report
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Wilke, Matheus V.
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132 |
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p. S112-S113
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artikel
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Lysosphingolipid detection using a non-invasive urine multiplex mass spectrometry approach for various lysosomal diseases
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Kelkel, Marcel André
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132 |
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p. S54-S55
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artikel
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Mast cell stabilizers in management of IgE independent mast cell activation in infusion related reactions in patients with Fabry disease
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Limgala, Renuka P.
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132 |
2 |
p. S64-S65
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artikel
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Meaningful endpoints in clinical trials for infantile Krabbe disease
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Lopez, Mabel A.
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132 |
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p. S66
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artikel
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Measures to mitigate disruption due to the COVID-19 pandemic of the MODIFY phase 3 pivotal trial in patients with Fabry disease
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Frey, Aline
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132 |
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p. S39-S40
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artikel
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Metab-Latam, four months of experience in the email discussion group
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Schwartz, Ida V.D.
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132 |
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p. S96-S97
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artikel
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Metabolizing profile of the cytochrome pathway CYP2D6, CYP3A4 and ACBC1 transporter in Spanish Gaucher disease patients
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Almeida, Alberto
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132 |
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p. S14
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Metabolomic study for the identification and characterization of novel Gaucher disease biomarkers
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Menkovic, Iskren
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132 |
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p. S71
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Migalastat clinical dose is highly extracted by hemodialysis and hemodiafiltration
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Johnson, Franklin K.
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132 |
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p. S52
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Migalastat 150 mg every other day achieves bioequivalent exposures in adolescent and adult patients with Fabry disease
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Ramaswami, Uma
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132 |
2 |
p. S90
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artikel
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Miglustat does not enhance alglucosidase alfa or avalglucosidase alfa efficacy in Pompe mice
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Anding, Allyson
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132 |
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p. S15
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artikel
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Mild forms of mucopolysaccharidosis type I (MPSI)
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Vashakmadze, Nato
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132 |
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p. S108
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artikel
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| 179 |
Mini-COMET study: Effects of repeat avalglucosidase alfa dosing on ptosis in participants with infantile-onset Pompe disease (IOPD) who were previously treated with alglucosidase alfa
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Davison, James
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132 |
2 |
p. S31-S32
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artikel
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| 180 |
Mini-COMET study: Individual participant-level responses to treatment in patients with infantile-onset Pompe disease receiving repeated dose regimens of avalglucosidase alfa or alglucosidase alfa who were previously treated with alglucosidase alfa
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Kishnani, Priya S.
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132 |
2 |
p. S57-S58
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artikel
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Modeling potential interactions between oral Gaucher disease treatment and investigational COVID-19 therapies
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Sahasrabudhe, Siddhee A.
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132 |
2 |
p. S93-S94
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artikel
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Modulation of the endocannabinoid receptor CB2 as a novel treatment for the lysosomal diseases
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Simonaro, Calogera M.
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132 |
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p. S100
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Molecular basis of mucopolysaccharidosis type IVA (Morquio syndrome type A): A review and classification of GALNS gene variants and reporting of new variants
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Singh, Akashdeep
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132 |
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p. S101
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Mosaic Fabry disease in a male presenting as hypertrophic cardiomyopathy: When enzyme levels are not enough
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Orsborne, Christopher
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132 |
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p. S80
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MPSBase: Comprehensive repository of differentially expressed genes for mucopolysaccharidoses studies
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Soares, Luis Dias Ferreira
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p. S102-S103
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MPS-specific physical symptom score (PSS) and adaptive functions in MPS IVA: A cross sectional study
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Ahmed, Alia
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p. S13
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MPS VII - extending the classical phenotype
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Oldham, Andrew
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132 |
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p. S78-S79
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Mullen Scales of Early Learning (MSEL) and Bayley Scales of Infant and Toddler Development (BSID): Utility in assessing cognitive endpoints in MPS clinical trials
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Kim, Aram
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132 |
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p. S55
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Natural history of Sanfilippo syndrome type B in young patients: Ongoing results from two large, prospective studies
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Giugliani, Roberto
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132 |
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p. S44
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Need leads to change: Transition to home infusion in Pompe disease in Brazil in the COVID-19 pandemic
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Horovitz, Dafne Dain Gandelman
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132 |
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p. S50
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NEO1/NEO-EXT studies: Safety and exploratory efficacy of repeat avalglucosidase alfa dosing after up to 6 years in participants with late-onset pompe disease (LOPD)
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Dimachkie, Mazen M.
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p. S34
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Neuronal ceroid lipofuscinosis assessment utilizing virtual visits during a pandemic
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Vierhile, Amy
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p. S108-S109
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Neuro-networks investigating the neurological impairment of mucopolysaccharidoses using a system biology approach
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Silva, Gerda Cristal Villalba
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132 |
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p. S109
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Newborn screening for metachromatic leukodystrophy in Northern Germany- a prospective study
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Wiesinger, Thomas
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p. S112
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Newborn screening for six lysosomal diseases in Brazil: Pilot study update
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Kubaski, Francyne
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p. S60
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New insights in the TRAZELGA project for the adult type 1 Gaucher disease patients treated with eliglustat follow-up
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Gonzalo, Irene Serrano
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p. S99
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New insights into GI manifestations in late-onset Pompe disease: Lessons from the bench and bedside
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Korlimarla, Aditi
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p. S58-S59
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Non-clinical evaluation of a blood-brain barrier-penetrable a-N-acetylglucosaminidase in a mouse model of mucopolysaccharidosis type IIIB
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Imakiire, Atsushi
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p. S50-S51
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Non-clinical evaluation of a blood-brain barrier-penetrable N-sulfoglucosamine sulfohydrolase in a mouse model of mucopolysaccharidosis type IIIA
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Tanaka, Satowa
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p. S105-S106
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Novel mechanism of SRT and ERT on recovering the function of mitochondrial and autophagy-lysosomal pathway in Gaucher disease neuronal cell model
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Sun, Ying
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p. S105
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Novel regulatory function of GCN5L1 in lysosomal tubulation and biogenesis
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Seylani, Allen
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p. S99
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Open-label clinical trial of anakinra in mucopolysaccharidosis type III: Interim analysis
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Polgreen, Lynda E.
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p. S87-S88
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Oral aspects of Gaucher disease: A case report
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D'Amore, Simona
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p. S29
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Oral venglustat in Parkinson disease patients with a GBA mutation: Study design of part 2 of the MOVES-PD trial and patient characteristics
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Peterschmitt, M. Judith
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p. S85
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Oregon's experience with newborn screening for Fabry disease, Gaucher disease, Pompe disease and mucopolysaccharidosis type I
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Viall, Sarah
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p. S108
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Orthopedic manifestations in patients with mucopolysaccharidosis type II enrolled in the Hunter Outcome Survey
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Link, Bianca
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p. S65
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Persistent effect of arimoclomol in patients with Nuemann-Pick disease type C: 12-month results from an open-label extension of a pivotal phase 2/3 study
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Patterson, Marc C.
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p. S83
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Persistent thrombocytopenia in Gaucher disease (GD): A case report
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Morado, Marta
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p. S72-S73
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Pharmacokinetics properties of arimoclomol in Niemann-Pick disease type C: Modest and not clinically relevant effect of bodyweight or age
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Anderson, Thomas W.
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p. S14
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Phase I/II clinical trial design for a novel therapy for mucopolysaccharidosis type I with an intravenously administered blood-brain barrier-crossing enzyme (JR-171)
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Higurashi, Ryo
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p. S49
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Phenocopy of acroparesthesias complicating a Fabry disease diagnosis
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Henderson, Nadene D.
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p. S48
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Phenotypic target organ and biomarker variation within a family with late onset Fabry disease
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Coker, Jennifer
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p. S27
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Phlebotomy in the treatment of hemosiderosis associated with Gaucher disease
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Schwartz, Ida V.D.
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p. S96
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Podocyte globotriaosylceramide (GL-3) content declines sharply within 5 months of agalsidase-β enzyme replacement treatment followed by a more gradual decline thereafter
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Najafian, Behzad
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Population-based newborn screening for mucopolysaccharidosis type II: A single center's experience
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Quadri, Allegra M.
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p. S89
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Preclinical results in rodents strongly support clinical evaluation of scAAV9/MFSD8 as a potential gene therapy for CLN7 patients
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Chen, Xin
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p. S24
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Preclinical studies to support the intrathecal delivery of scAAV9/SUMF1 as a gene replacement therapy for multiple sulfatase deficiency
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Bailey, Rachel M.
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PREDIGA project: Preliminary results of the Spanish multicenter epidemiological and medical education project in acid sphingomyelinase deficiency disease (ASMD) and Gaucher disease (GD)
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Villarrubia, Jesus
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Preliminary proteomic analysis reveals less abundant endosome-related proteins in gla- knockout zebrafish (Danio rerio)
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Elsaid, Hassan Osman Alhassan
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p. S37
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Prevalence of hearing problems in adult mucopolysaccharidosis
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Stepien, Karolina M.
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p. S104
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Prevention of cognitive decline in patients with neuronopathic mucopolysaccharidosis type II treated by intracerebroventricular enzyme replacement therapy: 100-week results of an open-label phase 1/2 study
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Okuyama, Torayuki
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p. S78
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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. S100
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PR001 gene therapy increased GCase activity and improved neuronopathic Gaucher disease phenotypes
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p. S99-S100
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Production and characterization of a recombinant alpha-N-acetyl glucosaminidase enzyme in the Pichia pastoris yeast
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Triana, Heidy Johana
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p. S106-S107
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Program and AbstractsWORLDSymposium™ 2021*17th Annual Research MeetingVirtual Scientific Sessions
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p. S1
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Proposed stages of cardiomyopathy in Fabry disease
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Augusto, Joao B.
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p. S17
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artikel
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Proteomics for the study of new biomarkers in Fabry disease: State of the art
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Rossi, Federica
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p. 86-93
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artikel
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| 228 |
PS gene editing with a novel HEXO construct to treat both Tay-Sachs and Sandhoff diseases
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Ou, Li
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p. S80-S81
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artikel
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Psychometric validation of the Gaucher Disease Questionnaire (GDQ) to assess quality of life in patients with Gaucher disease
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Elstein, Deborah
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p. S37
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artikel
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Psychosine-reducing molecules as therapies for globoid-cell leukodystrophy
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Katabuchi, Asaka
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p. S54
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artikel
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| 231 |
Quality of life of patients with metachromatic leukodystrophy and their caregivers in the US, UK, Germany and France
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Pang, Francis
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p. S81
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artikel
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Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
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Kubaski, Francyne
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p. S60
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artikel
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RANSIP newborn screening program: Working to bring early diagnostics, inclusion, and therapeutic access to metachromatic leukodystrophy patients
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Suhr, Dean
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p. S104-S105
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Red Fabry: First year results of a Spanish pedigree project on Fabry disease
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Barriales-Villa, Roberto
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p. S19
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artikel
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Reduction of heparan sulfate in the brain by pabinafusp alfa results in prevention of neurodegeneration and neurocognitive impairment in a mouse model of mucopolysaccharidosis type II
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Morimoto, Hideto
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p. S73
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artikel
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Report of the first Brazilian patients with MPS IIID, with the observation of an unexpected increase of di-sulfated keratan sulfate
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Kubaski, Francyne
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p. S59
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Repurposing drugs for CLN1 Batten disease: An integrative drug discovery approach
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Puhl, Ana C.
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p. S88-S89
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artikel
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Rescue of NPC1 protein by the heat shock response amplifier arimoclomol across multiple genotypes
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Petersen, Nikolaj Havnsøe Torp
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p. S85-S86
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artikel
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RGX-121 gene therapy for severe mucopolysaccharidosis type II (MPS II): A clinical program to address central nervous system manifestations
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Cowley, Kirsten
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p. S29
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artikel
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RGX-121 gene therapy for severe mucopolysaccharidosis type II (MPS II): Interim results of an ongoing first in human trial
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Nevoret, Marie-Laure
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p. S76
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RNA-seq analysis in three Gaucher sib-pairs discordant for Parkinson disease
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Garcia, Eric Joshua
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p. S42
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RNA-seq analysis of GBA1 haploinsufficiency in brain samples from a Parkinson mouse model
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Perez, Gani
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p. S84
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Rosa damascena Mill attenuated the liver and kidneys injuries in copper-overloaded mice
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Lafhal, Karima
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p. S61
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artikel
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Safety and effectiveness of resistance training in patients with late-onset Pompe disease: A pilot study
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Kimonis, Virginia
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p. S56
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Safety of intracisternal administration of AAV9 based gene therapy: Case series of PR001 in infants with type 2 Gaucher disease
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Zibly, Zion
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p. S116
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Salford Mucopolysaccharidosis Airway Score (SMAS): A novel marker of the severity of the airway disease in adult mucopolysaccharidoses
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p. S41
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Nichols, Caitlin A.
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p. S77
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Kubaski, Francyne
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Fluharty, Brian
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p. S39
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SIG-005: Novel encapsulated non-viral cell-based therapy for MPS I
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Donovan, Marissa
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p. S35
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SIG-018: Novel encapsulated non-viral cell-based therapy for MPS II
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Tietz, Drew
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p. S106
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artikel
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Muenzer, Joseph
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p. S74
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artikel
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Single-dose AAV9-CLN6 gene transfer slows the decline in motor and language function in variant late infantile neuronal ceroid lipofuscinosis 6: Interim results from phase 1/2 trial
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de los Reyes, Emily
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p. S15
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p. S91
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Buss, Nicholas
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p. S21
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Hughes, Derralynn
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p. S50
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Linhart, Ales
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p. S65
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Table of Contents
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p. iii-iv
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Ten years of Fabry disease in the Northern Irish population
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Sulaiman, Habitha Mohammed
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p. S72
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artikel
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Testing new biomarkers for lysosomal diseases
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de Frutos, Laura López
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p. S66
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The beta-glucuronidase intracisternal A particle insertion model results in similar overall MPS VII phenotype as the single base deletion model when on the same C57BL/6 J mouse strain
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Heldermon, Coy D.
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p. S48
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The chemical chaperone 4-phenylbutyrate enhances alpha-galactosidase activity subsequent to stop-codon read-through therapy with triamterene in Fabry R227X fibroblasts
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Dündar, Halil
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p. S35-S36
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The chloroquine-induced phenocopy of Fabry disease keratopathy
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Whitley, Chester B.
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p. S111-S112
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The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I
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Broomfield, A.
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p. 94-99
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Grant, Nathan
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p. S45-S46
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Jacobsen, Leslie
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p. S51-S52
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p. S30
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p. S17
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p. S79
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p. S58
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p. S102
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Tralesinidase alfa (AX 250) enzyme replacement therapy for Sanfilippo syndrome type B
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Two siblings with attenuated MPS II form: Long term enzyme replacement therapy
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Utilization of artificial intelligence to identify undiagnosed Fabry patients: Development of a validated machine learning model
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Wilson disease in children: A series of 43 cases
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Elhanafi, Fatima Ezzohra
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WORLDSymposium™ 2021 Program*
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p. S7-S12
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