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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031822/
https://www.ncbi.nlm.nih.gov/pubmed/27672653
http://dx.doi.org/10.1155/2016/4074365

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031822/
https://www.ncbi.nlm.nih.gov/pubmed/27672653
http://dx.doi.org/10.1155/2016/4074365

Ejemplares similares