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Orphanet Journal of Rare Diseases|March 29, 2025
Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome SurveysShoshana Revel-Vilk, Uma Ramaswami, Guillem Pintos-Morell, et al.Biotechnology and Applied Biochemistry|August 4, 2007
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI diseasePaola Di Natale, Guglielmo R D Villani, Rossella Parini, et al.European Journal of Pediatrics|November 27, 2007
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapyJ Edmond Wraith, Maurizio Scarpa, Michael Beck, et al.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.Molecular Genetics and Metabolism|September 20, 2024
Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome SurveyJoseph Muenzer, Hernan Amartino, Barbara K Burton, 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.Orphanet Journal of Rare Diseases|December 19, 2022
Rare disease education in Europe and beyond: time to actBirute Tumiene, Harm Peters, Bela Melegh, 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.Journal of Neurology|October 13, 2023
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks surveyMichelangelo Mancuso, Piervito Lopriore, Costanza Lamperti, 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.Pageof 15