Variants in the ethylmalonyl‐CoA decarboxylase ( ECHDC1 ) gene: a novel player in ethylmalonic aciduria?-Reference-Cited by-同舟云学术

Variants in the ethylmalonyl‐CoA decarboxylase ( ECHDC1 ) gene: a novel player in ethylmalonic aciduria?

Published:2021-06-08 Issue:5 Volume:44 Page:1215-1225
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Fogh Sarah¹²,Dipace Graziana¹,Bie Anne¹,Veiga‐da‐Cunha Maria³,Hansen Jakob⁴,Kjeldsen Margrethe¹,Mosegaard Signe¹,Ribes Antonia⁵,Gregersen Niels¹,Aagaard Lars²,Van Schaftingen Emile³,Olsen Rikke K. J.¹^ORCID

Affiliation:

1. Research Unit for Molecular Medicine, Department for Clinical Medicine Aarhus University and Aarhus University Hospital Aarhus Denmark

2. Department of Biomedicine Aarhus University Aarhus Denmark

3. Welbio and de Duve Institute Université Catholique de Louvain Brussels Belgium

4. Department of Forensic Medicine Aarhus University Hospital Aarhus Denmark

5. Secció d'Errors Congènits del Metabolisme‐IBC, Servei de Bioquímica i Genètica Molecular Hospital Clínic, IDIBAPS, CIBERER Barcelona Spain

Funder

Fonds De La Recherche Scientifique - FNRS

Ministerio de Ciencia e Innovación

Instituto de Salud Carlos III

Aarhus Universitet

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12394

Reference41 articles.

1. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

2. Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

3. Clear relationship betweenETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

4. Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

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