Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain-Reference-Cited by-同舟云学术

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Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain

Published:2021-01 Issue: Volume:228 Page:240-251.e2
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Naess Karin^ORCID,Bruhn Helene,Stranneheim Henrik,Freyer Christoph,Wibom Rolf,Mourier Arnaud,Engvall Martin,Nennesmo Inger,Lesko Nicole,Wredenberg Anna,Wedell Anna,von Döbeln Ulrika

Funder

Ragnar Söderbergs stiftelse

European Research Council

Stockholms Läns Landsting

Knut och Alice Wallenbergs Stiftelse

Agence Nationale de la Recherche

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference38 articles.

1. Minimum birth prevalence of mitochondrial respiratory chain disorders in children;Skladal;Brain,2003

2. Spectrum of combined respiratory chain defects;Mayr;J Inherit Metab Dis,2015

3. Mitochondrial disease in childhood: mtDNA encoded;Saneto;Neurotherapeutics,2013

4. Genetic counselling for maternally inherited mitochondrial disorders;Poulton;Mol Diagn Ther,2017

5. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies;Taylor;JAMA,2014

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Understanding coenzyme Q;Physiological Reviews;2024-10-01

2. Phenotyping mitochondrial DNA‐related diseases in childhood: A cohort study of 150 patients;European Journal of Neurology;2023-04-25

3. A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a;neurogenetics;2023-04-11

4. First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations;Frontiers in Genetics;2022-09-15

5. Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle;Frontiers in Physiology;2022-07-14

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