MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM

Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is an autosomal recessive disease caused by biallelic pathogenic ACADM variants. We report a case of an asymptomatic Japanese girl with MCAD deficiency caused by compound heterozygous pathogenic variants (NM_000016.5:c.1040G > T (p.Gly3...

Descripción completa

Detalles Bibliográficos
Autores principales: Nohara, Fumikatsu, Tajima, Go, Sasai, Hideo, Makita, Yoshio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761748/
https://www.ncbi.nlm.nih.gov/pubmed/35034956
http://dx.doi.org/10.1038/s41439-021-00177-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761748/
https://www.ncbi.nlm.nih.gov/pubmed/35034956
http://dx.doi.org/10.1038/s41439-021-00177-3

Ejemplares similares