| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abnormal pathology findings in a patient with Gaucher disease type 3 treated with enzyme replacement therapy
|
Burrow, Thomas
|
|
2013
|
108 |
2 |
p. S27-
1 p.
|
artikel
|
| 2 |
A case report of a stroke in a 5-year-old male with MPS II
|
Cagle, Stephanie
|
|
2013
|
108 |
2 |
p. S28-
1 p.
|
artikel
|
| 3 |
Acid ceramidase: One enzyme with multiple therapeutic uses
|
Schuchman, Edward
|
|
2013
|
108 |
2 |
p. S82-S83
2 p.
|
artikel
|
| 4 |
A comprehensive program for the diagnosis of Niemann–Pick disease type C in Brazil (NPC Brazil Network)
|
Souza, Fernanda
|
|
2013
|
108 |
2 |
p. S87-
1 p.
|
artikel
|
| 5 |
Acquired autistic behaviors in children with MPS IIIA
|
Rumsey, Robin
|
|
2013
|
108 |
2 |
p. S80-
1 p.
|
artikel
|
| 6 |
Activation of PPAR-a:RXRa pathway upregulates tripeptidyl peptidase 1 in brain cells: Implications for late infantile neuronal ceroid lipofuscinosis therapy
|
Ghosh, Arunava
|
|
2013
|
108 |
2 |
p. S42-S43
2 p.
|
artikel
|
| 7 |
Activation of the unfolded protein response in Gaucher disease
|
Maor, Gali
|
|
2013
|
108 |
2 |
p. S63-
1 p.
|
artikel
|
| 8 |
A disease severity scoring system for children with type 1 Gaucher disease
|
Kallish, Staci
|
|
2013
|
108 |
2 |
p. S51-S52
2 p.
|
artikel
|
| 9 |
Adjunctive 2-agonist therapy enhanced biochemical correction and biomarker reduction from an AAV vector expressing acid alpha-glucosidase in the skeletal muscle of mice with Pompe disease
|
Koeberl, Dwight
|
|
2013
|
108 |
2 |
p. S54-S55
2 p.
|
artikel
|
| 10 |
Agalsidase alfa in pediatric patients with Fabry disease: A 7-year open-label study
|
Schiffmann, Raphael
|
|
2013
|
108 |
2 |
p. S81-S82
2 p.
|
artikel
|
| 11 |
Age at symptom onset, diagnosis, and enzyme replacement therapy (ERT) initiation among family members with mucopolysaccharidosis II (Hunter Syndrome): Data from the Hunter Outcome Survey (HOS)
|
Ficicioglu, Can
|
|
2013
|
108 |
2 |
p. S39-
1 p.
|
artikel
|
| 12 |
Age-related changes in abnormal movement and social-emotional behaviors on the Sanfilippo Behavior Rating Scale: Relationship to subcortical volumes
|
Potegal, Michael
|
|
2013
|
108 |
2 |
p. S77-
1 p.
|
artikel
|
| 13 |
A high-throughput screening assay using Krabbe disease patient cells
|
Maegawa, Gustavo
|
|
2013
|
108 |
2 |
p. S63-
1 p.
|
artikel
|
| 14 |
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III
|
Sun, Baodong
|
|
2013
|
108 |
2 |
p. 145-147
3 p.
|
artikel
|
| 15 |
A longitudinal study of hexosaminidase deficiency (Tay–Sachs disease, Sandhoff disease)
|
Whitley, Chester
|
|
2013
|
108 |
2 |
p. S98-S99
2 p.
|
artikel
|
| 16 |
Along the “deDuve-ian” trail: Research with colleagues & fellows on the path toward LSD delineation and treatment
|
Desnick, Robert
|
|
2013
|
108 |
2 |
p. S34-
1 p.
|
artikel
|
| 17 |
A metabolomic study reveals novel Gb3 analogues in urine of Fabry patients
|
Boutin, Michel
|
|
2013
|
108 |
2 |
p. S25-S26
2 p.
|
artikel
|
| 18 |
A multicenter, double-blind, randomized safety and efficacy study of two dose levels of taliglucerase alfa in pediatric patients with Gaucher disease
|
Zimran, Ari
|
|
2013
|
108 |
2 |
p. S101-
1 p.
|
artikel
|
| 19 |
A multi-national, randomized, double-blind, placebo-controlled study to evaluate the efficacy and safety of BMN 110 treatment for mucopolysaccharidosis IVA (Morquio syndrome type A)
|
Hendriksz, Christian
|
|
2013
|
108 |
2 |
p. S48-
1 p.
|
artikel
|
| 20 |
Analysis of efficacy and safety of two iron chelators in type 1 Gaucher disease patients with iron overload
|
Medrano-Engay, Blanca
|
|
2013
|
108 |
2 |
p. S64-S65
2 p.
|
artikel
|
| 21 |
Analysis of non-reducing ends (NRE) of glycosaminoglycans for the diagnosis and monitoring of therapy in Mucopolysaccharidosis Type I.
|
Pasquali, Marzia
|
|
2013
|
108 |
2 |
p. S73-
1 p.
|
artikel
|
| 22 |
An attenuated form of Morquio disease in Northern Ireland
|
Stewart, Fiona
|
|
2013
|
108 |
2 |
p. S88-
1 p.
|
artikel
|
| 23 |
Anesthetic care and outcome in children with Sanfilippo syndrome type A
|
Cingi, Elif
|
|
2013
|
108 |
2 |
p. S30-
1 p.
|
artikel
|
| 24 |
An open-label, switchover trial to assess the safety and efficacy of Fabrazyme in patients with Fabry disease treated with Replagal enzyme replacement therapy
|
Richards, Sarah
|
|
2013
|
108 |
2 |
p. S78-S79
2 p.
|
artikel
|
| 25 |
A novel, selective and orally-available glucosylceramide synthase inhibitor for substrate reduction therapy of Fabry disease
|
Ashe, Karen
|
|
2013
|
108 |
2 |
p. S20-
1 p.
|
artikel
|
| 26 |
An overview of the rare diseases clinical research network
|
Leduc, Renee
|
|
2013
|
108 |
2 |
p. S59-
1 p.
|
artikel
|
| 27 |
Anti-drug antibody findings of agalsidase alfa for Fabry Disease: Treatment-naïve or formerly treated with agalsidase beta
|
Goker-Alpan, Ozlem
|
|
2013
|
108 |
2 |
p. S44-
1 p.
|
artikel
|
| 28 |
A phase 2a study to investigate drug–drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alfa-glucosidase in subjects with Pompe disease
|
Kishnani, Priya
|
|
2013
|
108 |
2 |
p. S54-
1 p.
|
artikel
|
| 29 |
A phase 2a study to investigate the effect of a single dose of migalastat HCl, a pharmacological chaperone, on agalsidase activity in subjects with Fabry disease
|
Warnock, David
|
|
2013
|
108 |
2 |
p. S96-
1 p.
|
artikel
|
| 30 |
A phase 3, randomized, double-blind, placebo-controlled, multi-center study to investigate the efficacy and safety of eliglustat in patients with Gaucher disease type 1 (ENGAGE): Results after 9months of treatment
|
Mistry, Pramod
|
|
2013
|
108 |
2 |
p. S66-S67
2 p.
|
artikel
|
| 31 |
Approach to management of cross-reactive immunologic material (CRIM)-negative infantile pompe patients treated with ERT: Role of immune modulation in changing the natural history
|
Banugaria, Suhrad
|
|
2013
|
108 |
2 |
p. S23-
1 p.
|
artikel
|
| 32 |
A quantitative comparison of brain morphology in MPS I, MPS II, and MPS VI
|
Kovac, Victor
|
|
2013
|
108 |
2 |
p. S55-S56
2 p.
|
artikel
|
| 33 |
A randomized, multicenter, multinational, phase 3B, open-label, parallel-group study of agalsidase beta in treatment-naive male pediatric patients with Fabry disease without severe symptoms: Baseline demographics and clinical data
|
Wijburg, Frits
|
|
2013
|
108 |
2 |
p. S99-
1 p.
|
artikel
|
| 34 |
A retrospective review of the natural course of Mucopolysaccharidosis VII
|
Montaño, Adriana
|
|
2013
|
108 |
2 |
p. S67-
1 p.
|
artikel
|
| 35 |
A review of the clinical presentation and diagnosis of Mucopolysaccharidosis IVA
|
Tomatsu, Shunji
|
|
2013
|
108 |
2 |
p. S90-S91
2 p.
|
artikel
|
| 36 |
A revised home treatment algorithm for Fabry disease: Influence of antibody formation
|
Smid, B.E.
|
|
2013
|
108 |
2 |
p. 132-137
6 p.
|
artikel
|
| 37 |
A size comparison of beta-galactosidase isolated from fibroblasts from normal and GM1-affected sheep
|
Ahern-Rindell, Amelia
|
|
2013
|
108 |
2 |
p. S17-
1 p.
|
artikel
|
| 38 |
Assessing the Blood–brain barrier permeability with high dose enzyme replacement therapy in mucopolysaccharidosis type I mice
|
Ou, Li
|
|
2013
|
108 |
2 |
p. S71-
1 p.
|
artikel
|
| 39 |
Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder
|
di Malta, Chiara
|
|
2013
|
108 |
2 |
p. S35-
1 p.
|
artikel
|
| 40 |
A study of intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis I
|
Chen, Agnes
|
|
2013
|
108 |
2 |
p. S29-
1 p.
|
artikel
|
| 41 |
Augmenting glucocerebrosidase activity in the CNS as a therapeutic strategy for Gaucher-related synucleinopathies
|
Cheng, Seng
|
|
2013
|
108 |
2 |
p. S29-
1 p.
|
artikel
|
| 42 |
A 7-year open-label study of clinical parameters and therapeutic goals in patients with type 1 Gaucher disease receiving treatment with velaglucerase alfa: Updating the long-term experience with velaglucerase alfa
|
Elstein, Deborah
|
|
2013
|
108 |
2 |
p. S37-
1 p.
|
artikel
|
| 43 |
Benefit of enzyme replacement therapy in Fabry disease: Comparison of outcomes in the Canadian Fabry Disease Initiative study
|
West, Michael
|
|
2013
|
108 |
2 |
p. S97-
1 p.
|
artikel
|
| 44 |
Beyond brochures: Evaluating resources about lysosomal storage diseases for children and preteens
|
Laney, Dawn
|
|
2013
|
108 |
2 |
p. S58-
1 p.
|
artikel
|
| 45 |
Biochemical evidence of the effects of SBC-103, a recombinant human alpha-N-acetylglucosaminidase in a mucopolysaccharidosis IIIB mouse model using an improved analytical method for substrate quantification
|
Leavitt, Mark
|
|
2013
|
108 |
2 |
p. S58-S59
2 p.
|
artikel
|
| 46 |
Biomarker discovery in Batten disease
|
Pearce, David
|
|
2013
|
108 |
2 |
p. S74-
1 p.
|
artikel
|
| 47 |
Biomarker responses to eliglustat, an investigational oral substrate reduction therapy (SRT) for Gaucher disease type 1 (GD1)
|
Peterschmitt, M. Judith
|
|
2013
|
108 |
2 |
p. S74-
1 p.
|
artikel
|
| 48 |
Biomarkers of bone remodeling in children with Hurler syndrome
|
Polgreen, Lynda
|
|
2013
|
108 |
2 |
p. S75-S76
2 p.
|
artikel
|
| 49 |
Bone mineral density change in type 1 Gaucher disease adults given velaglucerase alfa for 2years
|
Zimran, Ari
|
|
2013
|
108 |
2 |
p. S101-
1 p.
|
artikel
|
| 50 |
Brain MRI abnormalities in GM2-gangliosidosis
|
Pan, Jessica
|
|
2013
|
108 |
2 |
p. S71-S72
2 p.
|
artikel
|
| 51 |
Brain-penetrant lysosomal enzymes constructed by fusion with Angiopep-2, a unique LRP-1 binding peptide
|
Lachowicz, Jean
|
|
2013
|
108 |
2 |
p. S57-
1 p.
|
artikel
|
| 52 |
Brazilian information service for inborn errors of metabolism (SIEM): Overview after ten years of operation
|
Souza, Carolina
|
|
2013
|
108 |
2 |
p. S87-
1 p.
|
artikel
|
| 53 |
C5a mediated increases of CD40 and CD40L molecules on dendritic and T cells are critical to Th1–Th17 mediated inflammation in Gaucher disease model
|
Pandey, Manoj
|
|
2013
|
108 |
2 |
p. S72-
1 p.
|
artikel
|
| 54 |
Cardiac findings in untreated infants <1year of age with severe mucopolysaccharidosis (MPS) I
|
Braunlin, Elizabeth
|
|
2013
|
108 |
2 |
p. S26-
1 p.
|
artikel
|
| 55 |
Cardiac improvement after enzyme replacement therapy in Fabry disease
|
Liu, Hao-Chuan
|
|
2013
|
108 |
2 |
p. S61-
1 p.
|
artikel
|
| 56 |
Carotid intima–media thickness is increased in patients with mucopolysaccharidoses Types I, II, and VI and is correlated with arterial stiffness
|
Wang, Raymond
|
|
2013
|
108 |
2 |
p. S95-S96
2 p.
|
artikel
|
| 57 |
Causes of deaths in Niemann–Pick disease types A and B
|
Mengel, Eugen
|
|
2013
|
108 |
2 |
p. S65-
1 p.
|
artikel
|
| 58 |
Cell non-autonomous neuronal death implied by neuronal differentiation of induced pluripotent stem cells from Gaucher disease type 2 fibroblasts
|
Sun, Ying
|
|
2013
|
108 |
2 |
p. S88-S89
2 p.
|
artikel
|
| 59 |
Cervical spine pathology in Hunter syndrome: Data from the Hunter Outcome Survey
|
Harmatz, Paul
|
|
2013
|
108 |
2 |
p. S46-S47
2 p.
|
artikel
|
| 60 |
Changes in diagnostic time, therapeutic options and clinical outcomes in patients with lysosomal storage disorders (LSD) in Southwestern Ontario over the past two decades.
|
Ladha, Alysha
|
|
2013
|
108 |
2 |
p. S57-S58
2 p.
|
artikel
|
| 61 |
Chaperone therapy for neuronopathic Gaucher disease
|
Narita, Aya
|
|
2013
|
108 |
2 |
p. S69-
1 p.
|
artikel
|
| 62 |
Characterization of differential tissue GAA content and CI-M6PR/IGF2R expression using autopsy material obtained from 2 patients with CRIM-negative infantile Pompe disease treated with ERT
|
Prater, Sean
|
|
2013
|
108 |
2 |
p. S77-S78
2 p.
|
artikel
|
| 63 |
Cholesteryl ester storage disease (CESD): An under-recognized and treatable LSD with liver dysfunction/failure and dyslipidemia
|
Bernstein, Donna
|
|
2013
|
108 |
2 |
p. S24-
1 p.
|
artikel
|
| 64 |
Clinical and molecular characterization of Niemann–Pick types A/B patients
|
Irun, Pilar
|
|
2013
|
108 |
2 |
p. S49-
1 p.
|
artikel
|
| 65 |
Clinical course of 13 patients with Fabry disease switching from agalsidase-α to agalsidase-β and who were followed for 36months
|
Tsuboi, Kazuya
|
|
2013
|
108 |
2 |
p. S93-
1 p.
|
artikel
|
| 66 |
Clinical effects of neutralizing anti-agalsidase antibodies in patients receiving enzyme replacement therapy in the Canadian Fabry Disease Initiative Study
|
West, Michael
|
|
2013
|
108 |
2 |
p. S97-S98
2 p.
|
artikel
|
| 67 |
Clinical event status of patients with Fabry disease after long-term treatment with agalsidase beta and follow-up from The Fabry Registry
|
Germain, Dominique P.
|
|
2013
|
108 |
2 |
p. S42-
1 p.
|
artikel
|
| 68 |
Clinical follow-up in a group of Gaucher type I patients switching enzyme replacement therapy from imiglucerase to velaglucerase
|
Bembi, Bruno
|
|
2013
|
108 |
2 |
p. S23-S24
2 p.
|
artikel
|
| 69 |
Clinical variability in five pairs of siblings with Niemann–Pick disease type C
|
Amraoui, Yasmina
|
|
2013
|
108 |
2 |
p. S19-S20
2 p.
|
artikel
|
| 70 |
Cognition and neuroimaging in MPS I: Effects of age, severity, and treatment
|
Shapiro, Elsa
|
|
2013
|
108 |
2 |
p. S83-S84
2 p.
|
artikel
|
| 71 |
Co-localization of macrophage aggregation and fibrosis in a rat model of lysosomal acid lipase (LAL) deficiency and the effects of enzyme replacement with SBC-102
|
Rutkowski, Joseph V.
|
|
2013
|
108 |
2 |
p. S80-S81
2 p.
|
artikel
|
| 72 |
Combination oral therapy for lysosomal gangliosidoses using FDA approved medications
|
Utz, Jeanine
|
|
2013
|
108 |
2 |
p. S94-
1 p.
|
artikel
|
| 73 |
Comparing IC6 and thalamic AAV5 injections on MPS IIIB model
|
Kolarich, Andrew
|
|
2013
|
108 |
2 |
p. S55-
1 p.
|
artikel
|
| 74 |
Comparison of liquid chromatography–tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urine
|
Tomatsu, Shunji
|
|
2013
|
108 |
2 |
p. S91-
1 p.
|
artikel
|
| 75 |
Comparison of methods for the analysis of lysosomal enzyme activities in quality control dried blood spot specimens
|
Bali, Deeksha
|
|
2013
|
108 |
2 |
p. S22-
1 p.
|
artikel
|
| 76 |
Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme
|
Olarte-Avellaneda, Sergio
|
|
2013
|
108 |
2 |
p. S70-S71
2 p.
|
artikel
|
| 77 |
Coronary artery disease in non-Hurler mucopolysaccharidosis
|
Schroeder, Luke
|
|
2013
|
108 |
2 |
p. S82-
1 p.
|
artikel
|
| 78 |
Corpus callosum volume and fractional anisotropy as imaging biomarkers in canine mucopolysaccharidosis I
|
Dickson, Patricia
|
|
2013
|
108 |
2 |
p. S35-
1 p.
|
artikel
|
| 79 |
CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy
|
Al Khallaf, Hamoud
|
|
2013
|
108 |
2 |
p. S18-
1 p.
|
artikel
|
| 80 |
Crystal structure of N-acetylgalactosamine-6-sulfatase: The molecular basis for Mucopolysaccharidosis IVA
|
Rivera-Colon, Yadilette
|
|
2013
|
108 |
2 |
p. S79-
1 p.
|
artikel
|
| 81 |
Current and emerging treatments and surgical interventions for Morquio A syndrome: A review
|
Tomatsu, Shunji
|
|
2013
|
108 |
2 |
p. S91-
1 p.
|
artikel
|
| 82 |
Development of a next generation sequencing panel for lysosomal storage disorders
|
Wood, Tim
|
|
2013
|
108 |
2 |
p. S100-
1 p.
|
artikel
|
| 83 |
Development program for an intrathecally (IT) administered recombinant human arylsulfatase A in children with metachromatic leukodystrophy (MLD)
|
Dali, Christine
|
|
2013
|
108 |
2 |
p. S32-
1 p.
|
artikel
|
| 84 |
Diaphragm pacing augments ventilatory function in Pompe disease
|
Smith, Barbara
|
|
2013
|
108 |
2 |
p. S86-
1 p.
|
artikel
|
| 85 |
Differences in AAV serotype dependent distribution and tropism within the CNS of wild type and mutant mice in the MPS IIIB mouse model
|
Gilkes, Janine
|
|
2013
|
108 |
2 |
p. S43-
1 p.
|
artikel
|
| 86 |
DTI as a test for early infantile Krabbe disease
|
Escolar, Maria
|
|
2013
|
108 |
2 |
p. S37-
1 p.
|
artikel
|
| 87 |
Early initiation of agalsidase beta treatment is associated with fewer clinical events in women with Fabry disease: Data from the Fabry Registry
|
Hopkin, Robert
|
|
2013
|
108 |
2 |
p. S49-
1 p.
|
artikel
|
| 88 |
Echocardiographic findings in patients diagnosed with glycoproteinoses diseases
|
Pietris, Nicholas
|
|
2013
|
108 |
2 |
p. S75-
1 p.
|
artikel
|
| 89 |
Editorial Board
|
|
|
2013
|
108 |
2 |
p. IFC-
1 p.
|
artikel
|
| 90 |
Effect of miglustat on bone remodeling in vitro in a low bone density mouse model
|
Montaño, Adriana
|
|
2013
|
108 |
2 |
p. S67-
1 p.
|
artikel
|
| 91 |
Effect of neutral and acid pH on the fluorescence of 4-methylumbelliferone and the implications for dry blood spot assays
|
Jones, Iain
|
|
2013
|
108 |
2 |
p. S51-
1 p.
|
artikel
|
| 92 |
Eliminating autophagy by nocturnal enteral feeding reverses muscle dysfunction in late-onset Pompe disease
|
Slonim, Alfred
|
|
2013
|
108 |
2 |
p. S86-
1 p.
|
artikel
|
| 93 |
Enzyme assays in dried-cell filter paper samples: A new tool for the identification of lysosomal storage disorders
|
Civallero, Gabriel
|
|
2013
|
108 |
2 |
p. S30-S31
2 p.
|
artikel
|
| 94 |
Enzyme replacement therapy for MPS I: When is the right time to stop?
|
Berry, Lisa
|
|
2013
|
108 |
2 |
p. S24-
1 p.
|
artikel
|
| 95 |
Enzyme replacement therapy in a patient with type III Gaucher disease: Report of a paradigmatic case
|
Vairo, Filippo
|
|
2013
|
108 |
2 |
p. S94-S95
2 p.
|
artikel
|
| 96 |
Enzyme replacement therapy in MPS II patients over 20years of age or older at treatment initiation: An international case series from the Hunter Outcome Survey (HOS)
|
Whiteman, David
|
|
2013
|
108 |
2 |
p. S98-
1 p.
|
artikel
|
| 97 |
Enzyme replacement therapy reduces glycogen in skeletal muscle biopsies of late-onset Pompe patients
|
Thurberg, Beth
|
|
2013
|
108 |
2 |
p. S90-
1 p.
|
artikel
|
| 98 |
ERT and immune modulation can change the clinical course of CRIM negative Pompe disease — A case series of 3 related children
|
Jameson, Elisabeth
|
|
2013
|
108 |
2 |
p. S50-
1 p.
|
artikel
|
| 99 |
Establishing a biomarker research working group for the mucopolysaccharidoses
|
Cox, Gerald
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2013
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108 |
2 |
p. S31-S32
2 p.
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artikel
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Establishment of Morquio tissue repository bank
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Tomatsu, Shunji
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2013
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108 |
2 |
p. S91-S92
2 p.
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artikel
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| 101 |
Evaluation of biochemical genetic testing methods for the diagnosis of MLII or MLIII: Implications for newborn screening
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Pollard, Laura
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2013
|
108 |
2 |
p. S76-
1 p.
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artikel
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| 102 |
Evaluation of brain inflammation and cognitive abilities in the mouse model of MPS IIIC
|
Martins, Carla
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2013
|
108 |
2 |
p. S64-
1 p.
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artikel
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| 103 |
Evaluation of long-term enzyme replacement therapy for children with Fabry disease
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Hebert, Amanda
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2013
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108 |
2 |
p. S47-
1 p.
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artikel
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| 104 |
Evaluation of plasma globotriaosylsphingosine (LysoGb3) in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4+919G A)
|
Niu, Dau-Ming
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2013
|
108 |
2 |
p. S70-
1 p.
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artikel
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| 105 |
Evaluation of urinary biomarkers in patients with Fabry disease
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Young, Sarah
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2013
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108 |
2 |
p. S100-
1 p.
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artikel
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| 106 |
Evolutionary study of two enzymes involved in myelin degradation
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Echeverri, Olga
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2013
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108 |
2 |
p. S36-
1 p.
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artikel
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| 107 |
Experience in the use of innovative non-Medication technologies in treatment of children with mucopolysacharidoses in the Federal Clinical Center
|
Konova, Olga
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2013
|
108 |
2 |
p. S55-
1 p.
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artikel
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| 108 |
Experience of a Brazilian laboratory on acid alpha-glucosidase enzyme assay in dried blood spots on filter paper (DBS) and leukocytes samples
|
Kyosen, Sandra
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2013
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108 |
2 |
p. S57-
1 p.
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artikel
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| 109 |
Experience with taliglucerase alpha in Brazil at The State Institute of Hematoloy of Rio de Janeiro Arthur Siqueira Cavalcanti (HEMORIO)
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Cravo, Renata
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2013
|
108 |
2 |
p. S32-
1 p.
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artikel
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| 110 |
Exploring the use of a co-formulated pharmacological chaperone AT2220 with recombinant human acid alpha-glucosidase for Pompe disease
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Khanna, Richie
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2013
|
108 |
2 |
p. S53-
1 p.
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artikel
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| 111 |
Expression and glyco-engineering of alpha-galactosidase A in Pichia pastoris for the treatment of Fabry disease
|
De Visscher, Charlotte
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2013
|
108 |
2 |
p. S33-
1 p.
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artikel
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| 112 |
Expression of GALT modulates glucocerebrosidase enzyme activity
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Tamargo, Rafael
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2013
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108 |
2 |
p. S89-
1 p.
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artikel
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| 113 |
Eye-tracking evaluation of ocular motility in Pompe disease
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Fiumara, Agata
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2013
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108 |
2 |
p. S39-S40
2 p.
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artikel
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| 114 |
Fabry disease: 19 novel alterations in the alpha-galactosidase A gene in Brazilian families
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Turaça, Lauro
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2013
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108 |
2 |
p. S93-
1 p.
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artikel
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| 115 |
Fatigue and motor gains in children with Pompe disease undergoing gene replacement therapy for chronic ventilatory failure
|
Phillips, Dawn
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2013
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108 |
2 |
p. S74-S75
2 p.
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artikel
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| 116 |
Femoral head pathology in Sanfilippo disease
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de Ruijter, Jessica
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2013
|
108 |
2 |
p. S33-
1 p.
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artikel
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| 117 |
Follow up of Gaucher patients in “Mother Teresa Hospital” Tirana — Albania
|
Velmishi, Virtut
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2013
|
108 |
2 |
p. S95-
1 p.
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artikel
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| 118 |
Functionally neutralizing anti-laronidase antibodies and their clinical effects on three patients with Hurler–Scheie syndrome undergoing enzyme replacement therapy
|
Saif, Muhammad
|
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2013
|
108 |
2 |
p. S81-
1 p.
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artikel
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| 119 |
Gemfibrozil treatment prolongs the life span of mouse model of late infantile neuronal ceroid lipofuscinosis
|
Ghosh, Arunava
|
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2013
|
108 |
2 |
p. S43-
1 p.
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artikel
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| 120 |
Gene therapy for Fabry disease patients: The importance of efficient biomarker monitoring
|
Auray-Blais, Christiane
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2013
|
108 |
2 |
p. S21-
1 p.
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artikel
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| 121 |
Gene therapy for Hunter syndrome: Prevention of neurocognitive deficit in MPS II mice by engraftment with lentiviral vector-transduced hematopoietic stem cells (HSC) but not with wild type HSC
|
McIvor, R. Scott
|
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2013
|
108 |
2 |
p. S64-
1 p.
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artikel
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| 122 |
Genomic expression analyses reveal lysosomal innate-immunity proteins as disease correlates in murine models of a lysosomal storage disorder
|
Alam, Suhail
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2013
|
108 |
2 |
p. S18-
1 p.
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artikel
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| 123 |
Genotyping analysis available for patients after hematopoietic cell transplantation for multiple types of lysosomal diseases
|
Cooksley, Renee
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2013
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108 |
2 |
p. S31-
1 p.
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artikel
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| 124 |
Globotriaosylceramide (Gb3) induces a proinflammatory cytokine profile in dendritic cells and macrophages: Consequences for Fabry disease
|
De Francesco, Pablo
|
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2013
|
108 |
2 |
p. S33-
1 p.
|
artikel
|
| 125 |
Glucose tetrasaccharide as a biomarker in Pompe disease and other glycogen storage diseases
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Harvey, Katie
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2013
|
108 |
2 |
p. S47-
1 p.
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artikel
|
| 126 |
G6PC3 mutations cause non-syndromic severe congenital neutropenia
|
Banka, Siddharth
|
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2013
|
108 |
2 |
p. 138-141
4 p.
|
artikel
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| 127 |
Growth delay in lysosomal storage disorders
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Pillon, Roberto
|
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2013
|
108 |
2 |
p. S75-
1 p.
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artikel
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| 128 |
Hematopoiesis is dysregulated in a novel mouse model of Farber disease
|
Dworski, Shaalee
|
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2013
|
108 |
2 |
p. S36-
1 p.
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artikel
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| 129 |
Heparan sulfate and dermatan sulfate disaccharide levels for newborn screening in MPS I, MPS II and MPS III
|
van Vlies, Naomi
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2013
|
108 |
2 |
p. S95-
1 p.
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artikel
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| 130 |
Heparan sulphate inhibits CXCL12-mediated hematopoietic cell migration and engraftment in mucopolysaccharidosis type I mice
|
Bigger, Brian
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2013
|
108 |
2 |
p. S24-S25
2 p.
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artikel
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| 131 |
High incidence of GLA variants in a non-selected heart disease patient population suggests that the Fabry trait is a common cardiovascular genetic risk factor
|
Schiffmann, Raphael
|
|
2013
|
108 |
2 |
p. S82-
1 p.
|
artikel
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| 132 |
High-risk population screening for mucopolysaccharidoses and Pompe disease
|
Lukacs, Zoltan
|
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2013
|
108 |
2 |
p. S62-
1 p.
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artikel
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| 133 |
High sensitivity troponin T in a cohort of Fabry patients with left ventricular hypertrophy
|
Sharma, Reena
|
|
2013
|
108 |
2 |
p. S84-S85
2 p.
|
artikel
|
| 134 |
Histone deacetylases inhibitors rescue the aberrant alternative splicing of cardiac variant type Fabry disease with IVS4+919G>A mutation
|
Li, Cheng-Fang
|
|
2013
|
108 |
2 |
p. S61-
1 p.
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artikel
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| 135 |
Home infusions: One center's experience with ERT and self-infusion in the home setting
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Wehmeyer, Connie
|
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2013
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108 |
2 |
p. S97-
1 p.
|
artikel
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| 136 |
Hurler disease (MPS IH): Evidence for the need of increased awareness by caring non-metabolic physicians
|
Fiumara, Agata
|
|
2013
|
108 |
2 |
p. S40-
1 p.
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artikel
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| 137 |
I-cell disease: The experience of six centres
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Jameson, Elisabeth
|
|
2013
|
108 |
2 |
p. S50-
1 p.
|
artikel
|
| 138 |
Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA
|
Leistner-Segal, Sandra
|
|
2013
|
108 |
2 |
p. S59-S60
2 p.
|
artikel
|
| 139 |
Immune modulation in a patient with mucopolysaccharidosis II (MPSII) on idursulfase therapy with high titer anti-idursulfase antibodies
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Burton, Barbara
|
|
2013
|
108 |
2 |
p. S27-
1 p.
|
artikel
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| 140 |
Impact of growth hormone on changes in height, bone mineral density, lean body mass, and body fat over 1–2 years in children with Hurler or Hunter syndrome
|
Polgreen, Lynda
|
|
2013
|
108 |
2 |
p. S76-
1 p.
|
artikel
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| 141 |
Implementation of direct-to-patient (DPT) dried-blood-spot (DBS) screening for Fabry disease in adults with unexplained left-ventricular hypertrophy (LVH)
|
Goss, Kendrick
|
|
2013
|
108 |
2 |
p. S45-
1 p.
|
artikel
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| 142 |
Improved brain expression of iduronate sulfatase in the MPS II mouse after intravenous delivery of a self-complimentary adeno-associated viral (AAV) vector
|
Muenzer, Joseph
|
|
2013
|
108 |
2 |
p. S68-
1 p.
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artikel
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| 143 |
Increased circulating levels of osteoclast precursors in Gaucher disease patients: Implicances for bone pathology
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Mucci, Juan
|
|
2013
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108 |
2 |
p. S68-
1 p.
|
artikel
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| 144 |
Increased substrate concentration boosts enzyme activity levels of fluorometric α-l-iduronidase enzyme activity assay
|
Herzog, Tyler
|
|
2013
|
108 |
2 |
p. S48-
1 p.
|
artikel
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| 145 |
Increase in left ventricular mass index and acroparesthesia incidence in children with Fabry disease correlates with their GLA mutation
|
Ramaswami, Uma
|
|
2013
|
108 |
2 |
p. S78-
1 p.
|
artikel
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| 146 |
Induction of oral tolerance to N-acetylgalactosamine 6-sulfate sulfatase (GALNS) used for enzyme replacement therapy (ERT) in Morquio syndrome type A
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Sosa-Molano, Angela
|
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2013
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108 |
2 |
p. S86-S87
2 p.
|
artikel
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| 147 |
Influence of Dup24 and G102S polymorphisms in chitotriosidase activity at diagnosis and in its reduction along therapy
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Irun, Pilar
|
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2013
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108 |
2 |
p. S50-
1 p.
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artikel
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| 148 |
Intellectual functioning in children with MPS VI
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Kearney, Shauna
|
|
2013
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108 |
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p. S52-S53
2 p.
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artikel
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| 149 |
International Collaborative Gaucher Group (ICGG) Gaucher Registry: 20 years of sustainability and evolution
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Fallet, Shari
|
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2013
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108 |
2 |
p. S39-
1 p.
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artikel
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| 150 |
Intra-arterial delivery of AAVrh.10CLN2 after blood brain barrier disruption supports widespread gene expression in the murine brain
|
Foley, Conor
|
|
2013
|
108 |
2 |
p. S41-
1 p.
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artikel
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| 151 |
Intracerebral gene therapy for Sanfilippo syndrome type A
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Zinai, Amina
|
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2013
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108 |
2 |
p. S102-
1 p.
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artikel
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In vitro modeling Fabry heart disease using induced pluripotent stem cells
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Meng, Xingli
|
|
2013
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108 |
2 |
p. S65-
1 p.
|
artikel
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| 153 |
Isokinetic strength differences in patients with Mucopolysaccharidosis I, II, or VI
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Taylor, Natalie
|
|
2013
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108 |
2 |
p. S89-
1 p.
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artikel
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| 154 |
Is Parkinson disease associated with lysosomal integral membrane protein type-2?: Challenges in interpreting association data
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Maniwang, Emerson
|
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2013
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108 |
2 |
p. S63-
1 p.
|
artikel
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| 155 |
Juvenile neuronal ceroid lipofuscinosis (JNCL) is associated with aberrant glial activation in the central nervous system
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Kielian, Tammy
|
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2013
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108 |
2 |
p. S53-
1 p.
|
artikel
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| 156 |
Late-onset Tay–Sachs disease: A genocopy of spinal muscular atrophy?
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Trehan, Aditi
|
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2013
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108 |
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p. S92-S93
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artikel
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| 157 |
Liver ultrasound elastography using in children with mucopolysaccharidoses
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Namazova-Baranova, Leyla
|
|
2013
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108 |
2 |
p. S69-
1 p.
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artikel
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| 158 |
Longitudinal change in brain volumes and cognitive function in MPS IIIA
|
Nestrasil, Igor
|
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2013
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108 |
2 |
p. S69-S70
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artikel
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| 159 |
Longitudinal studies of brain structure and function in MPS disorders: A study of the Lysosomal Disease Network
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Shapiro, Elsa
|
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2013
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108 |
2 |
p. S84-
1 p.
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artikel
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| 160 |
Longitudinal studies of cognitive and adaptive behavior functioning in glycoproteinoses
|
Horowitz, Lucia
|
|
2013
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108 |
2 |
p. S49-
1 p.
|
artikel
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| 161 |
Long term follow up of the Mainz cohort of Gaucher disease type 3 patients
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Mengel, Eugen
|
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2013
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108 |
2 |
p. S65-S66
2 p.
|
artikel
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| 162 |
Long-term follow-up results in patients with classic infantile Pompe disease receiving enzyme therapy since newborn
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Chien, Yin-Hsiu
|
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2013
|
108 |
2 |
p. S29-S30
2 p.
|
artikel
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| 163 |
Long-term imiglucerase/alglucerase treatment in Latin American children with type 1 Gaucher disease: Lessons from the International Collaborative Gaucher Group (ICGG) Gaucher Registry
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Camelo Jr., Jose
|
|
2013
|
108 |
2 |
p. S28-
1 p.
|
artikel
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| 164 |
Longterm outcomes of patients receiving umbilical blood stem cell transplantation for MPS II
|
Escolar, Maria
|
|
2013
|
108 |
2 |
p. S37-S38
2 p.
|
artikel
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| 165 |
Long term safety and clinical activity of SBC-102, a recombinant human lysosomal acid lipase (rhLAL), in patients with late onset LAL deficiency
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Balwani, Manisha
|
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2013
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108 |
2 |
p. S22-S23
2 p.
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artikel
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| 166 |
Long-term safety and efficacy data of taliglucerase alfa, a Plant cell-expressed recombinant glucocerebrosidase, in the treatment of naïve Gaucher disease patients: 36-Month Results
|
Zimran, Ari
|
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2013
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108 |
2 |
p. S102-
1 p.
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artikel
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| 167 |
Low anal sphincter tone in infantile-onset Pompe Disease: An emerging clinical issue in enzyme replacement therapy patients requiring special attention
|
Tan, Queenie K.-G.
|
|
2013
|
108 |
2 |
p. 142-144
3 p.
|
artikel
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| 168 |
Low-dose, methotrexate induction treatment can induce immune tolerance to enzyme-replacement therapy in mice by eliciting IL-10-secreting regulatory B cells
|
Joseph, Alexandra
|
|
2013
|
108 |
2 |
p. S51-
1 p.
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artikel
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Lysosomal Disease Network's WORLD Symposium™ 2013
|
Whitley, Chester
|
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2013
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108 |
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p. S2-S7
6 p.
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artikel
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Magnetic resonance imaging and spectroscopy to evaluate muscle involvement in Pompe disease
|
Corti, Manuela
|
|
2013
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108 |
2 |
p. S31-
1 p.
|
artikel
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| 171 |
Maintenance of sleeping beauty transposon-mediated expression of human alpha-L-Iduronidase in mice
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Aronovich, Elena L.
|
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2013
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108 |
2 |
p. S20-
1 p.
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artikel
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Mathematical modeling of transgenic IDUA expression mediated by the sleeping beauty transposon system in mice
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Hall, Bryan C.
|
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2013
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108 |
2 |
p. S46-
1 p.
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artikel
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| 173 |
Measurement of alpha-galactosidase activity in dry blood spots; detection of Fabry female heterozygotes
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Parkes, Oliver
|
|
2013
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108 |
2 |
p. S73-
1 p.
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artikel
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| 174 |
Measuring cognitive effects of metabolic disease using eye-movements
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Blundell, James
|
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2013
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108 |
2 |
p. S25-
1 p.
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artikel
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| 175 |
Medical and treatment status correlates with central nervous system outcomes in mucopolysaccharidosis type VI
|
Ahmed, Alia
|
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2013
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108 |
2 |
p. S17-
1 p.
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artikel
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| 176 |
Membrane stabilization of neuronal function with phospholipid therapy in neurometabolic disorders
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Kane, Patricia
|
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2013
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108 |
2 |
p. S52-
1 p.
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artikel
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| 177 |
Memory in preschool children with MPS I and II
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Delaney, Kathleen
|
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2013
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108 |
2 |
p. S33-S34
2 p.
|
artikel
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| 178 |
Methodology of clinical research in rare diseases: Development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates
|
de Blieck, Elisabeth
|
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2013
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108 |
2 |
p. S32-
1 p.
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artikel
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| 179 |
Morbidity and mortality in type B Niemann–Pick disease
|
Wasserstein, Melissa
|
|
2013
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108 |
2 |
p. S96-
1 p.
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artikel
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| 180 |
Motor function decline and motor apraxia in Sanfilippo syndrome type A
|
Delaney, Kathleen
|
|
2013
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108 |
2 |
p. S34-
1 p.
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artikel
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| 181 |
Mouse model of MPS III type C defines pathophysiology of the disease
|
Pshezhetsky, Alexey
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2013
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108 |
2 |
p. S78-
1 p.
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artikel
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| 182 |
MPS Brazil Network: An efficient tool to identify MPS patients country-wide
|
Giugliani, Roberto
|
|
2013
|
108 |
2 |
p. S43-S44
2 p.
|
artikel
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| 183 |
MPS II unexpected fractures can these be prevented?
|
Roberts, Jane
|
|
2013
|
108 |
2 |
p. S79-
1 p.
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artikel
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| 184 |
Mucopolysaccaharidosis type II: Clinical, enzymatic, and ERT data and four novel mutations of eight cases
|
Önenli Mungan, Halise
|
|
2013
|
108 |
2 |
p. S71-
1 p.
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artikel
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| 185 |
Mucopolysaccharidosis IIIB (Sanfilippo syndrome type B) masquerading as a behavioral disorder
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Brady, Jacqueline
|
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2013
|
108 |
2 |
p. S26-
1 p.
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artikel
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Mucopolysaccharidosis type II clinical case
|
Kuzenkova, Ludmila
|
|
2013
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108 |
2 |
p. S56-
1 p.
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artikel
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| 187 |
Mucopolysaccharidosis Type VII (Sly disease) survivors
|
Arash, Laila
|
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2013
|
108 |
2 |
p. S20-
1 p.
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artikel
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| 188 |
Multiple Sulfatase Deficiency: Disease in search of a treatment!
|
Prasad, Chitra
|
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2013
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108 |
2 |
p. S77-
1 p.
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artikel
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| 189 |
Mutation analysis in mucopolysaccharidosis IVA
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Tylee, Karen
|
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2013
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108 |
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p. S93-S94
2 p.
|
artikel
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| 190 |
Myeloid driven stem cell gene therapy corrects a mouse model of Mucopolysaccharidiosis IIIA
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Sergijenko, Ana
|
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2013
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108 |
2 |
p. S83-
1 p.
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artikel
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| 191 |
Natural history of mucopolysaccharidosis I: Data from 1017 patients in the MPS I registry
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Beck, Michael
|
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2013
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108 |
2 |
p. S23-
1 p.
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artikel
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| 192 |
Neurologic involvement in Hunter syndrome: Data from the Hunter Outcome Survey (HOS)
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Escolar, Maria
|
|
2013
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108 |
2 |
p. S38-
1 p.
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artikel
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| 193 |
Neuropathological changes are more pronounced in mouse models of Mucopolysaccharidosis (MPS) type IIIA and IIIB over MPS I
|
Wilkinson, Fiona
|
|
2013
|
108 |
2 |
p. S99-S100
2 p.
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artikel
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| 194 |
Neuropsychological function and brain abnormalities in Children with attenuated Mucopolysaccharidosis type II
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Yund, Brianna
|
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2013
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108 |
2 |
p. S100-
1 p.
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artikel
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| 195 |
Neutral lipid storage disease with myopathy: A whole-body nuclear MRI and metabolic study
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Laforêt, Pascal
|
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2013
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108 |
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p. 125-131
7 p.
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Newborn screening and biomarkers for mucopolysaccharidoses
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Tomatsu, Shunji
|
|
2013
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108 |
2 |
p. S92-
1 p.
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artikel
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Newborn screening for Fabry disease leads to diagnosis in a symptomatic maternal relative
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Widera, Shanna
|
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2013
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108 |
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p. S99-
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artikel
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Newborn screening for lysosomal diseases: Perspectives and research opportunities from the National Institutes of Health
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Parisi, Melissa
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2013
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p. S72-S73
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New clinical manifestations in 2 brothers with alpha-mannosidosis
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Li, Hong
|
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2013
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108 |
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p. S61-
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artikel
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New insights from Glycoproteinoses Clinics 2012: Two days, six rare diseases, thirty patients
|
Cathey, Sara
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2013
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108 |
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p. S29-
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artikel
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New viral vectors for Morquio syndrome type A gene therapy
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Almeciga, Carlos
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2013
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108 |
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p. S19-
1 p.
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artikel
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Niemann–Pick C type 1 with severe pulmonary manifestations
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Staretz-Chacham, Orna
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2013
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108 |
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p. S88-
1 p.
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artikel
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Niemann–Pick disease type C and Crohn's disease: A UK centre's experience with review of the literature
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Jameson, Elisabeth
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2013
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108 |
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p. S50-S51
2 p.
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Non-inhibitory small molecule chaperones of glucocerebrosidase
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Sidransky, Ellen
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2013
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108 |
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p. S85-
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artikel
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Novel biomarkers for the mucopolysaccharidoses
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Simonaro, Calogera
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2013
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108 |
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p. S85-S86
2 p.
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artikel
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Novel mutations seen in rapid, fatal case of early onset LAL deficiency (Wolman disease)
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Gomez-Najera, Mariana
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2013
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108 |
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p. S44-S45
2 p.
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artikel
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Novel orally available brain penetrant small molecule inhibitors of ganglioside biosynthesis for the treatment of Sandhoff and Tay–Sachs diseases
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Bai, Xiaomei
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2013
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108 |
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p. S21-S22
2 p.
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artikel
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Novel transporters for MPS I and MPS IIIA enzyme replacement therapy
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Tong, Wenyong
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2013
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108 |
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p. S92-
1 p.
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artikel
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Oligosaccharides as new diagnostic biomarkers for mucopolysaccharidosis
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Asif, Ghazia
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2013
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108 |
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p. S21-
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One year outcomes of diaphragm gene therapy in ventilator dependent children with Pompe disease
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Byrne, Barry
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2013
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108 |
2 |
p. S27-
1 p.
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artikel
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Particular features of neurological symptoms with children suffering from MPS syndrome type II
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Kuzenkova, Ludmila
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2013
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108 |
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p. S56-S57
2 p.
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artikel
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Particular myosonografie In Pompe disease
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Karabul, Nesrin
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2013
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108 |
2 |
p. S52-
1 p.
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artikel
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Pharmacological chaperones for human alpha-N-acetylgalactosaminidase
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Garman, Scott
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2013
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108 |
2 |
p. S41-
1 p.
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artikel
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Phase 3 study of migalastat HCl for Fabry disease: Stage 1 results
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Nicholls, Kathy
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2013
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108 |
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p. S70-
1 p.
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artikel
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| 215 |
Plant cell-expressed recombinant glucocerebrosidase: Taliglucerase alfa as therapy for Gaucher disease in adults patients previously treated with imiglucerase: 24-month results
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Pastores, Gregory
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2013
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108 |
2 |
p. S73-S74
2 p.
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artikel
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| 216 |
Podocyturia correlates with proteinuria in patients with Fabry disease (FD) and is a potential biomarker of Fabry nephropathy
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Ponchiardi, Cecilia
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2013
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108 |
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p. S76-S77
2 p.
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artikel
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| 217 |
POM-001 phase 1/2 study of BMN 701, GILT-tagged recombinant human (rh) GAA in late-onset Pompe disease: Initial experience in 22 patients
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Byrne, Barry
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2013
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108 |
2 |
p. S28-
1 p.
|
artikel
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| 218 |
Predictors of long-term outcomes of MPS I patients treated with hematopoietic stem cell transplantation
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Escolar, Maria
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2013
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108 |
2 |
p. S38-
1 p.
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artikel
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Prevalence of late onset Pompe disease in unclassified LGMD
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Gupta, Punita
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2013
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108 |
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p. S45-
1 p.
|
artikel
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| 220 |
Production of human recombinant alpha-N-acetylglucosaminidase enzymes in two Pichia pastoris strains
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Espejo-Mojica, Angela
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2013
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108 |
2 |
p. S38-S39
2 p.
|
artikel
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Production of recombinant human N-acetylgalactosamine-6-sulfate sulfatase enzyme in Pichia pastoris
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Rodriguez, Alexander
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2013
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108 |
2 |
p. S79-S80
2 p.
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artikel
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| 222 |
Progression of pulmonary disease and related changes in lung cholesterol metabolism in mice with Niemann–Pick type C1 deficiency
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Ramirez, Charina M.
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2013
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108 |
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p. S62-S63
2 p.
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artikel
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| 223 |
Property based designed inhibitors of glycosphingolipid synthesis lower ganglioside GM2 in the Sandhoff mouse
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Shayman, James
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2013
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108 |
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p. S85-
1 p.
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artikel
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| 224 |
Protein aggregate formation induced by lysosomal membrane permeability in lysosomal disease
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Micsenyi, Matthew
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2013
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108 |
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p. S66-
1 p.
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artikel
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| 225 |
Psychosine, the cytotoxic sphingolipid that accumulates in globoid cell leukodystrophy, alters membrane architecture
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Hawkins-Salsbury, Jacqueline
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2013
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108 |
2 |
p. S47-
1 p.
|
artikel
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| 226 |
Quality-of-life in children with Hurler syndrome who have not yet been transplanted and those who are one year post transplant
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Kunin-Batson, Alicia
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2013
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108 |
2 |
p. S56-
1 p.
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artikel
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| 227 |
Raising awareness of the rare disease Sanfilippo syndrome type C using the Open Drug Discovery Teams (ODDT) mobile app
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Ekins, Sean
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2013
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108 |
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p. S36-S37
2 p.
|
artikel
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| 228 |
Rapidly advancing phenotype consistently identified in five Brazilian MPS VI patients homozygous for the R315Q mutation
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Giugliani, Roberto
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2013
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108 |
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p. S44-
1 p.
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artikel
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Regulatory science and product quality perspectives for lysosomal storage diseases
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Lacana, Emanuela
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2013
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108 |
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p. S57-
1 p.
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artikel
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| 230 |
Relationship of genotype, treatment and age with medical phenotype in mucopolysaccharidosis Type I
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Ahmed, Alia
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2013
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108 |
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p. S17-S18
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|
artikel
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| 231 |
Relationship of serum HIF1a, VEGF-A and TGF-a to clinical severity in Fabry disease
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Hadjimichael, Efthymios
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2013
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108 |
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p. S45-S46
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Relative quantification of seven urinary Lyso-Gb3 analogues as Fabry disease biomarkers
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Lavoie, Pamela
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2013
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108 |
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p. S58-
1 p.
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artikel
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| 233 |
Renal structural-functional relationship (SFR) studies suggest that podocyte GL-3 accumulation predicts urine protein creatinine ratio in Fabry disease (FD) nephropathy (FDN)
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Najafian, Behzad
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2013
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108 |
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p. S68-S69
2 p.
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artikel
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Residual enzyme activity determines phenotypic severity in mucopolysaccharidosis type I
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Kingma, Sandra
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2013
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108 |
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p. S54-
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Role of creatine as biomarker of mitochondrial diseases
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Pajares, Sonia
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2013
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108 |
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p. 119-124
6 p.
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Role of inflammation in pathogenesis of Morquio syndrome type A
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Montaño, Adriana
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2013
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108 |
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p. S68-
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artikel
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| 237 |
Screening for MPS VI in a high-incidence area of Northeast Brazil: Report of the first 1,000 newborns tested
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Leistner-Segal, Sandra
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2013
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108 |
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p. S60-
1 p.
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artikel
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Shotgun proteomics reveals possible mechanisms for cognitive impairment in mucopolysaccharidosis type I mice
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Baldo, Guilherme
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2013
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108 |
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p. S22-
1 p.
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artikel
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Small molecule inhibition of glucosylceramide synthase affects bone remodeling in mice
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Leger, Andrew
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2013
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108 |
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Small molecule inhibitors of glycosaminoglycan biosynthesis as substrate optimization therapy for the mucopolysaccharidoses
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Brown, Jillian R.
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2013
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108 |
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p. S26-
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Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B12 metabolism
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Mah, Wayne
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2013
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108 |
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p. 112-118
7 p.
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| 242 |
Successful screening of 100,000+ newborns for Fabry, Pompe, Mucopolysaccharidosis-I by tandem mass spectroscopy
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Scott, C. Ronald
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2013
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108 |
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Supplement Title Page
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2013
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108 |
2 |
p. S1-
1 p.
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artikel
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| 244 |
Systematic screening detects no increase in incidence of lupus anticoagulant or heritable thrombophilias amongst patients with Fabry disease
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Thomas, Alison
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2013
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108 |
2 |
p. S90-
1 p.
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artikel
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| 245 |
Table of Contents
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2013
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108 |
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p. iii-iv
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artikel
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| 246 |
The condition of hearing in patients with varying types of mucopolysaccharidosis (MPS)
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Namazova-Baranova, Leyla
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2013
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108 |
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p. S60-
1 p.
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The development and evaluation of a macrophage model of Gaucher disease
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Moaven, Nima
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2013
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108 |
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p. S67-
1 p.
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artikel
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| 248 |
The humoral immune response to intravenous recombinant human alpha-L-iduronidase alters its tissue delivery in murine mucopolysaccharidosis I
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Dickson, Patricia
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2013
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108 |
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p. S35-
1 p.
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The impact of Fabry on pregnancy (IFOP)
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Holmes, Alexandrea
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2013
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1 p.
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The importance of precisely measured dietary management for patients on miglustat therapy
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Utz, Jeanine
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2013
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108 |
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p. S94-
1 p.
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The importance of targeting the central nervous system for treatment of respiratory insufficiency in Pompe disease
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Fuller, David
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2013
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The incidence of mucopolysaccharidoses and related disorders in the Turkish population: A 3 year study
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Church, Heather
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2013
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1 p.
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The incidence of p.R506Q and c.G20210A mutations in South Brazilian patients with Fabry disease and with Gaucher disease
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Leistner-Segal, Sandra
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2013
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108 |
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p. S60-
1 p.
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| 254 |
The influence of a polymorphism in the gene encoding angiotensin converting enzyme (ACE) on treatment outcomes in late onset Pompe patients receiving alglucosidase alfa
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McVie-Wylie, Alison
|
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2013
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108 |
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The lysosomal disease network
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Diethelm-Okita, Brenda
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2013
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The majority of MPS I patients tested raise inhibitory allo-antibodies against enzyme replacement therapy
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Saif, Muhammad
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2013
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1 p.
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The molecular basis of pharmacological chaperoning in human alpha-galactosidase
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Garman, Scott
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2013
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p. S41-S42
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The molecular mechanism of genistein action in lysosomal storage diseases: A transcriptomic approach
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Wegrzyn, Grzegorz
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2013
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p. S96-S97
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The MorquioBetter Project: Global patient registry for Morquio syndrome type B disease and late-onset GM1-gangliosidosis
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Alexander, George
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2013
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p. S18-S19
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The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)
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Parini, Rossella
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2013
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The natural history of juvenile Batten disease (JNCL; CLN3 disease)
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Mink, Jonathan
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2013
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1 p.
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The natural history of Sanfilippo syndrome type A
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Thakkar, Kavita
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2013
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p. S90-
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The origins of glucosylsphingosine in Gaucher disease
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Flanagan, John
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p. S40-S41
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The Pompe disease experience in Washington State: Epidemiology, clinical comparisons and mutation update
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Hale, Susan
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2013
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The role of androgen receptor pathway in pathogenesis of Fabry disease and its therapeutic implications
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Shen, Jinsong
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2013
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The use of primary myotubes and fibroblasts for the evaluation of pharmacological chaperone therapy in Pompe disease
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Westbroek, Wendy
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2013
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Towards the development of a less immunogenic protein for enzyme replacement therapy of Morquio disease type A
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Sosa-Molano, Angela
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2013
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Upregulation of the sorting receptor sortilin in response to lysosomal proliferation reduces TGF-beta bioavailability in Mucolipidosis II Cells
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Steet, Richard
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2013
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Use of sapropterin in the management of phenylketonuria: Seven case reports
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Gokmen Ozel, H.
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2013
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Use of the L-idonojirimycin derivatives as pharmacological chaperones for the treatment of Gaucher disease
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Alfonso, Pilar
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2013
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artikel
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Utilizing interactive web mapping technology to map unmet medical need for enzyme replacement therapy (ERT) for Fabry, Gaucher and MPS II
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Schroeder, Andrew
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2013
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Vascular endothelial growth factor (VEGF-A) in Fabry disease correlation with the cutaneous and the systemic manifestations with vascular involvement
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Zampetti, Anna
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2013
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p. S100-S101
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Visual attention in children with Morquio syndrome
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Blundell, James
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2013
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Visual memory and working memory as assessed by a computerized measure in individuals with mucopolysaccharidosis, Type I (MPSI)
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King, Kelly
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2013
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Visual perceptual functioning and associated brain volumetrics in individuals with MPS I and II
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King, Kelly
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2013
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“What lies beneath:” Unraveling Nieman–Pick type C disease in adults
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Lourenco, Charles
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2013
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p. S61-S62
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White matter hyperintensity volume assessment in patients with Fabry disease
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Rost, Natalia
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2013
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WORLD Symposium 2013 Program
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2013
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X-Chromosome tissue inactivation in Fabry disease
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Gervas-Arruga, Javier
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2013
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“You can't always get what you want”: Filipin staining unmasking lysosomal acid lipase (LAL) deficiency in a young child
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Lourenco, Charles
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2013
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108 |
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p. S62-
1 p.
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