Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

Propionic acidemia (PA) is an autosomal recessive metabolic disorder. PA is characterized by deficiency of the mitochondrial enzyme propionyl CoA carboxylase (PCC) that results in the accumulation of propionic acid. Alpha and beta subunits of the PCC enzyme are encoded by the PCCA and PCCB genes, re...

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Detalles Bibliográficos
Autores principales: Al-Hamed, Mohamed H., Imtiaz, Faiqa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Alamoudi, Mohamed S., Faqeih, Eissa, Alfadhel, Majid, Al-Asmari, Ali, Saleh, M.M., Almutairi, Fuad, Moghrabi, Nabil, AlSayed, Moeenaldeen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349011/
https://www.ncbi.nlm.nih.gov/pubmed/30705822
http://dx.doi.org/10.1016/j.ymgmr.2018.12.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349011/
https://www.ncbi.nlm.nih.gov/pubmed/30705822
http://dx.doi.org/10.1016/j.ymgmr.2018.12.004

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