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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2021
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiencyGeorge A Diaz, Simon A Jones, Maurizio Scarpa, et al.Plos One|July 28, 2017
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C diseaseMagali Pettazzoni, Roseline Froissart, Cécile Pagan, et al.Acta Paediatrica (Oslo, Norway : 1992)|May 26, 2018
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatmentAnna Tylki-Szymańska, Linda De Meirleir, Maja Di Rocco, et al.Clinical Genetics|June 14, 2019
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I RegistryLorne A Clarke, Roberto Giugliani, Nathalie Guffon, et al.Journal of the American Society of Nephrology : JASN|April 6, 2007
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry diseaseDominique P Germain, Stephen Waldek, Maryam Banikazemi, et al.Orphanet Journal of Rare Diseases|September 25, 2016
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective studyMarie-Caroline Husson, Manuel Schiff, Alain Fouilhoux, et al.Acta Paediatrica (Oslo, Norway : 1992)|September 23, 2018
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcomeRossella Parini, Alexander Broomfield, Maureen A Cleary, et al.Orphanet Journal of Rare Diseases|December 14, 2022
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year resultsGeorge A Diaz, Roberto Giugliani, Nathalie Guffon, et al.Molecular Genetics and Metabolism|March 6, 2007
The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type IGregory M Pastores, Pamela Arn, Michael Beck, et al.Journal of Inherited Metabolic Disease|May 26, 2022
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemiaCecilia Marelli, Alain Fouilhoux, Jean-Francois Benoist, et al.Pageof 11