Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency.

Bai, Ruimiao; He, ALing; Guo, Jinzhen; Li, Zhankui; Yu, Xiping; Zeng, JunAn; Mi, Yang; Wang, Lin; Zhang, Jingjing; Yang, Dong

Bai, Ruimiao; He, ALing; Guo, Jinzhen; Li, Zhankui; Yu, Xiping; Zeng, JunAn; Mi, Yang; Wang, Lin; Zhang, Jingjing; Yang, Dong.

Afiliação

Bai R; Department of Neonatology, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
He A; Department of Neonatology, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Guo J; Department of Neonatology, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Li Z; Department of Neonatology, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Yu X; Department of Neonatology, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Zeng J; Department of Neonatology, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Mi Y; Department of Obstetrics, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Wang L; Genetics Center, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Zhang J; Medical Imaging Center, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.
Yang D; Department of Neonatology, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, China.

Front Neurosci ; 16: 1025572, 2022.

Article em En | MEDLINE | ID: mdl-36340787

Palavras-chave

carbamoyl phosphate synthetase 1 (CPS1); carbamoyl phosphate synthetase 1 deficiency (CPS1D); molecular diagnosis; next-generation sequencing (NGS); urea cycle disorder

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Front Neurosci Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China

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