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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Bibliografiska uppgifter
I publikationen:Orphanet J Rare Dis
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2019
Ämnen:
Research
Länkar: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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