Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients

The aim of this report is to analyze the clinical features, and mutations of the methylmalonyl CoA mutase (MUT) gene in 2 patients with methylmalonic aciduria (MMA) attending King Saud University Medical City, Riyadh, Saudi Arabia in January 2014. The infants aged 6 days (patient 1) and 3 months (pa...

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Detalles Bibliográficos
Autores principales: Mohamed, Sarar, Hamad, Muddathir H., Abu-Amero, Khaled K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Saudi Medical Journal 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613637/
https://www.ncbi.nlm.nih.gov/pubmed/26318470
http://dx.doi.org/10.15537/smj.2015.9.12118

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613637/
https://www.ncbi.nlm.nih.gov/pubmed/26318470
http://dx.doi.org/10.15537/smj.2015.9.12118

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