Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes

Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by mutations in the GALNS gene, which leads to deficient activity of N‐acetylglucosamine‐6‐sulfate sulfatase. MPS IVA patients usually present skeletal dysplasia, coarse features, short stature, airw...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Politei, Juan, Porras‐Hurtado, Gloria Liliana, Guelbert, Norberto, Fainboim, Alejandro, Horovitz, Dafne Dain Gandelman, Satizábal, José María
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2021
Assuntos:
Research Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7932870/
https://ncbi.nlm.nih.gov/pubmed/33728253
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12192
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