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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Vydáno v:Eur J Hum Genet
Hlavní autoři: Danhauser, Katharina, Herebian, Diran, Haack, Tobias B, Rodenburg, Richard J, Strom, Tim M, Meitinger, Thomas, Klee, Dirk, Mayatepek, Ertan, Prokisch, Holger, Distelmaier, Felix
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
Témata:
Short Report
On-line přístup: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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