Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With <i>ALDH7A1</i> Deficiency.

Jiao, Xianru; Gong, Pan; Wu, Ye; Zhang, Yuehua; Yang, Zhixian

Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency.

Jiao, Xianru; Gong, Pan; Wu, Ye; Zhang, Yuehua; Yang, Zhixian.

Afiliación

Jiao X; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Gong P; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Wu Y; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Zhang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Yang Z; Department of Pediatrics, Peking University First Hospital, Beijing, China.

Front Genet ; 12: 644447, 2021.

Article en En | MEDLINE | ID: mdl-33868381

Palabras clave

ALDH7A1; developmental delay; epilepsy; pyridoxine-dependent epilepsy; sibling

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: Front Genet Año: 2021 Tipo del documento: Article País de afiliación: China

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