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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...

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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

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