Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency

Glutaric aciduria type II (GA-II) is a rare autosomal recessive disease caused by defects in electron transfer flavoprotein (ETF), ultimately causing insufficiencies in multiple acyl-CoA dehydrogenase (MAD). 3-phosphoglycerate dehydrogenase (3-PHGDH) deficiency, is another rare autosomal disorder th...

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Vydáno v:Genes (Basel)
Hlavní autoři: Ali, Amanat, Dhahouri, Nahid Al, Almesmari, Fatmah Saeed Ali, Fathalla, Waseem Mahmoud, Jasmi, Fatma Al
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2021
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8150808/
https://ncbi.nlm.nih.gov/pubmed/34066864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12050703
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