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Enzyme replacement therapy

Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients

Arndt Rolfs, Anne-Katrin Giese, [ ... ], Hermann Mascher

Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies

Regina El Dib, Huda Gomaa, [ ... ], Fellype Barreto

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase

David G. Warnock, Daniel G. Bichet, [ ... ], Franklin K. Johnson

Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors

Maarten Arends, Marieke Biegstraaten, [ ... ], Carla E. M. Hollak

Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT

Suhrad G. Banugaria, Sean N. Prater, [ ... ], Priya S. Kishnani

Long-Term Effect of Antibodies against Infused Alpha-Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)Gb3 Reduction and Treatment Outcome

Saskia M. Rombach, Johannes M. F. G. Aerts, [ ... ], Gabor E. Linthorst

Mannose 6-Phosphate Receptor and Sortilin Mediated Endocytosis of α-Galactosidase A in Kidney Endothelial Cells

Thaneas Prabakaran, Rikke Nielsen, [ ... ], Erik I. Christensen

Globotriaosylsphingosine Accumulation and Not Alpha-Galactosidase-A Deficiency Causes Endothelial Dysfunction in Fabry Disease

Mehdi Namdar, Catherine Gebhard, [ ... ], Giovanni G. Camici

A Rapid and Sensitive Method for Measuring N-Acetylglucosaminidase Activity in Cultured Cells

Victor Mauri, Parisa Lotfi, Laura Segatori, Marco Sardiello

Liver Fibrosis in Type I Gaucher Disease: Magnetic Resonance Imaging, Transient Elastography and Parameters of Iron Storage

Anneloes E. Bohte, Laura van Dussen, [ ... ], Carla E. M. Hollak

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation

L. Lavalle, A. S. Thomas, [ ... ], D. A. Hughes

Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy

Chandu Sadasivan, Josie T. Y. Chow, [ ... ], Alex P. W. Lee

Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types

Rena Okawa, Kazuma Kokomoto, [ ... ], Kazuhiko Nakano

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