Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

Coenzyme Q(10) (CoQ(10)) has an important role in mitochondrial energy metabolism by way of its functioning as an electron carrier in the respiratory chain. Genetic defects disrupting the endogenous biosynthesis pathway of CoQ(10) may lead to severe metabolic disorders with onset in early childhood....

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Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Danhauser, Katharina, Herebian, Diran, Haack, Tobias B, Rodenburg, Richard J, Strom, Tim M, Meitinger, Thomas, Klee, Dirk, Mayatepek, Ertan, Prokisch, Holger, Distelmaier, Felix
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2016
Konular:
Short Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4755375/
https://ncbi.nlm.nih.gov/pubmed/26081641
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.133
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