MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM.

Nohara, Fumikatsu; Tajima, Go; Sasai, Hideo; Makita, Yoshio.

Afiliação

Nohara F; Department of Pediatrics, Asahikawa-Kosei General Hospital, Hokkaido, Japan.
Tajima G; Division of Neonatal Screening, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
Sasai H; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
Makita Y; Department of Genetic Counseling, Asahikawa Medical University Hospital, Hokkaido, Japan. makita5p@asahikawa-med.ac.jp.

Hum Genome Var ; 9(1): 2, 2022 Jan 17.

Article em En | MEDLINE | ID: mdl-35034956

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article