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American Journal of Medical Genetics. Part A|February 4, 2005
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)Stuart J Swiedler, Michael Beck, Manal Bajbouj, et al.Orphanet Journal of Rare Diseases|May 4, 2017
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registryJoseph Muenzer, Simon A Jones, Anna Tylki-Szymańska, et al.JIMD Reports|February 25, 2026
Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extensionJoseph Muenzer, Barbara K Burton, Paul Harmatz, et al.Journal of Inherited Metabolic Disease|September 10, 2024
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis IIJoseph Muenzer, Barbara K Burton, Paul Harmatz, et al.American Journal of Medical Genetics|September 5, 2002
Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathyAnne-Marie Lamhonwah, Simon E Olpin, Rodney J Pollitt, et al.Orphanet Journal of Rare Diseases|April 18, 2015
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiencyFrédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire, et al.Orphanet Journal of Rare Diseases|May 7, 2025
Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient surveyKarolina M Stepien, Sophie Thomas, Julia B Hennermann, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2018
Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparisonJulie B Eisengart, Kyle D Rudser, Yong Xue, et al.American Journal of Human Genetics|June 12, 2012
TMEM165 deficiency causes a congenital disorder of glycosylationFrançois Foulquier, Mustapha Amyere, Jaak Jaeken, et al.Pharmacoepidemiology and Drug Safety|December 16, 2011
Source document verification in the Mucopolysaccharidosis Type I RegistryKarien Verhulst, Laura Artiles-Carloni, Michael Beck, et al.Pageof 11