Literature DB >> 34090639

Encephalopathy, kidney failure and retinopathy. CoQ10 deficiency due to COQ8B mutation.

Victor Adam Lancet1, Yolanda Romero Salas2, María Luisa Justa Roldán2, María Concepción García Jiménez3, Gema Ariceta Iraola4.   

Abstract

Entities:  

Year:  2021        PMID： 34090639     DOI： 10.1016/j.anpede.2020.05.008

Source DB:  PubMed          Journal:  An Pediatr (Engl Ed)        ISSN： 2341-2879


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  1 in total

1.  Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.

Authors:  Neringa Jurkute; Francesca Cancellieri; Lisa Pohl; Catherina H Z Li; Robert A Heaton; Janine Reurink; James Bellingham; Mathieu Quinodoz; Georgia Yioti; Maria Stefaniotou; Marianna Weener; Theresia Zuleger; Tobias B Haack; Katarina Stingl; Carel B Hoyng; Omar A Mahroo; Iain Hargreaves; F Lucy Raymond; Michel Michaelides; Carlo Rivolta; Susanne Kohl; Susanne Roosing; Andrew R Webster; Gavin Arno
Journal:  NPJ Genom Med       Date:  2022-10-20       Impact factor: 6.083
  1 in total

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