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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Biomed Res Int
Päätekijät: Abdul Wahab, Siti Aishah, Yakob, Yusnita, Abdul Azize, Nor Azimah, Md Yunus, Zabedah, Huey Yin, Leong, Mohd Khalid, Mohd Khairul Nizam, Lock Hock, Ngu
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Hindawi Publishing Corporation 2016
Aiheet:
Research Article
Linkit: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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