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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Biomed Res Int
Huvudupphovsmän: Abdul Wahab, Siti Aishah, Yakob, Yusnita, Abdul Azize, Nor Azimah, Md Yunus, Zabedah, Huey Yin, Leong, Mohd Khalid, Mohd Khairul Nizam, Lock Hock, Ngu
Materialtyp: Artigo
Språk:Inglês
Publicerad: Hindawi Publishing Corporation 2016
Ämnen:
Research Article
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk