A carregar...
Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study
BACKGROUND: Mucopolysaccharidosis (MPS) IVA, also known as Morquio A syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase. Early recognition, diagnosis, and treatment of this progressive, multisystem disease by enzy...
Na minha lista:
| Publicado no: | Orphanet J Rare Dis |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7706253/ https://ncbi.nlm.nih.gov/pubmed/33256811 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01618-y |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|