Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1

Glutaric aciduria type 1 (GA1) is an autosomal recessive metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase enzyme encoded by the GCDH gene. In this study, we presented the clinical and molecular findings of seven GA1 patients in Malaysia. All the patients were symptomatic from in...

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Detalhes bibliográficos
Publicado no:Biomed Res Int
Main Authors: Abdul Wahab, Siti Aishah, Yakob, Yusnita, Abdul Azize, Nor Azimah, Md Yunus, Zabedah, Huey Yin, Leong, Mohd Khalid, Mohd Khairul Nizam, Lock Hock, Ngu
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5031822/
https://ncbi.nlm.nih.gov/pubmed/27672653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/4074365
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