Genotype–phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey
This analysis contributes toward the understanding of MPS II genotype-phenotype relationships, confirming and expanding on existing findings in a large, geographically diverse population.
Authors
- David Merberg (ORCID: https://orcid.org/0000-0002-5153-2889)
- Jennifer Audi
- Anna Tylki‐Szymańska (ORCID: https://orcid.org/0000-0002-8935-1768)
- David Whiteman (ORCID: https://orcid.org/0000-0001-6383-9338)
- Jaco Botha (ORCID: https://orcid.org/0000-0002-8889-9959)
- Madhusudan Natarajan
- Joseph Muenzer (ORCID: https://orcid.org/0000-0002-4035-6592)
- Daniel Fertek
- Roberto Giugliani (ORCID: https://orcid.org/0000-0001-9655-3686)
- Maurizio Scarpa
- Barbara K. Burton
- Hernán Amartino
Institutions
- University of North Carolina at Chapel Hill (US)
- Universidade Federal do Rio Grande do Sul (BR)
- Takeda (Switzerland) (CH)
- Hospital Universitario Austral (AR)
- Children's Memorial Health Institute (PL)
- Lurie Children's Hospital (US)
- Ospedale Santa Maria della Misericordia di Udine (IT)
- National Institute on Population Medical Genetics (BR)
- Takeda (United States) (US)
Publication Details
- Journal
- Molecular Genetics and Metabolism
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1016/j.ymgme.2024.108576
- Citations
- 5
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.63