Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resulting from pathogenic variants in the α‐L‐iduronidase (IDUA) gene. Clinical phenotypes range from severe (Hurler syndrome) to attenuated (Hurler‐Scheie and Scheie syndromes) and vary in age of onset, severity, and rate o...

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Detalhes bibliográficos
Publicado no:Clin Genet
Main Authors: Clarke, Lorne A., Giugliani, Roberto, Guffon, Nathalie, Jones, Simon A., Keenan, Hillary A., Munoz‐Rojas, Maria V., Okuyama, Torayuki, Viskochil, David, Whitley, Chester B., Wijburg, Frits A., Muenzer, Joseph
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2019
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6852151/
https://ncbi.nlm.nih.gov/pubmed/31194252
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13583
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