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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Vydáno v:Biomed Res Int
Hlavní autoři: Abdul Wahab, Siti Aishah, Yakob, Yusnita, Abdul Azize, Nor Azimah, Md Yunus, Zabedah, Huey Yin, Leong, Mohd Khalid, Mohd Khairul Nizam, Lock Hock, Ngu
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2016
Témata:
Research Article
On-line přístup: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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