Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

BACKGROUND: Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate, leading to skeletal and other systemic imp...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Leong, Huey Yin, Abdul Azize, Nor Azimah, Chew, Hui Bein, Keng, Wee Teik, Thong, Meow Keong, Mohd Khalid, Mohd Khairul Nizam, Hung, Liang Choo, Mohamed Zainudin, Norzila, Ramlee, Azura, Md Haniffa, Muzhirah Aisha, Yakob, Yusnita, Ngu, Lock Hock
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6570902/
https://ncbi.nlm.nih.gov/pubmed/31200731
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1105-6
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