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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Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2025-01-01
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Series: | Frontiers in Pediatrics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1378083/full |
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