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American Journal of Medical Genetics. Part A|July 28, 2017
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndromeNatario L Couser, Daniel S Marchuk, Laurie D Smith, et al.
European Journal of Pediatrics|November 1, 2011
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensusJoseph Muenzer, Olaf Bodamer, Barbara Burton, et al.
Orphanet Journal of Rare Diseases|October 28, 2022
Sanfilippo syndrome: consensus guidelines for clinical careNicole Muschol, Roberto Giugliani, Simon A Jones, et al.
Orphanet Journal of Rare Diseases|July 2, 2025
Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome SurveyJoseph Muenzer, Hernan Amartino, Roberto Giugliani, et al.
Molecular Genetics and Metabolism|December 12, 2018
Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trialFrits A Wijburg, Chester B Whitley, Joseph Muenzer, et al.
Human Mutation|June 29, 2016
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional ActivatorMihaela Pupavac, David Watkins, Francis Petrella, et al.
Orphanet Journal of Rare Diseases|November 17, 2023
Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational studyJoseph Muenzer, Barbara K Burton, Hernan M Amartino, et al.
Molecular Genetics and Metabolism|January 17, 2026
Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis II enrolled in the Hunter Outcome SurveyBarbara K Burton, Nathalie Guffon, Jane Roberts, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2015
A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis IIJoseph Muenzer, Christian J Hendriksz, Zheng Fan, 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.
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