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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Detalles Bibliográficos
Autores principales: Politei, Juan, Porras‐Hurtado, Gloria Liliana, Guelbert, Norberto, Fainboim, Alejandro, Horovitz, Dafne Dain Gandelman, Satizábal, José María
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7932870/
https://www.ncbi.nlm.nih.gov/pubmed/33728253
http://dx.doi.org/10.1002/jmd2.12192

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