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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2019
Matèries:
Research Paper
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6349011/
https://ncbi.nlm.nih.gov/pubmed/30705822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.12.004
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars