Clinical follow-up of 2 families with glomerulopathy caused by COQ8B gene variants and literature review

BackgroundPrimary coenzyme Q10 (CoQ10) deficiency is an autosomal recessive genetic disease caused by mitochondrial dysfunction. Variants in Coenzyme Q8B (COQ8B) can cause primary CoQ10 deficiency. COQ8B-related glomerulopathy is a recently recognized glomerular disease that most often presents as s...

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Bibliografiska uppgifter

Huvudupphov:	Lei Zhang, Gentzon Hall, Peitong Han, Chunzhen Li, Jieyuan Cui
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Frontiers Media S.A. 2025-01-01
Serie:	Frontiers in Pediatrics
Ämnen:	COQ8B variant glomerulopathy steroid-resistant nephrotic syndrome focal segmental glomerulosclerosis autosomal recessive
Länkar:	https://www.frontiersin.org/articles/10.3389/fped.2024.1378083/full
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