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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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Bibliographische Detailangaben
Veröffentlicht in:Orphanet J Rare Dis
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2019
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Online Zugang: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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