[Holocarboxylase synthetase deficiency induced by <i>HLCS</i> gene mutations: a rare disease study].

Li, Ke-Yao; Tang, Jian-Ping; Jiang, Yan-Ling; Yue, Shu-Zhen; Zhou, Bin; Wen, Rong; Zhou, Ze-Tao; Wei, Zhu

[Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study]. / ç½è§çç ç©¶ï¼HLCSåºå çªåè´å¨ç¾§åé¶åæé¶ç¼ºä¹ç.

Li, Ke-Yao; Tang, Jian-Ping; Jiang, Yan-Ling; Yue, Shu-Zhen; Zhou, Bin; Wen, Rong; Zhou, Ze-Tao; Wei, Zhu.

Li KY; Department of Dermatology, Hunan Children's Hospital, Changsha 410007, China.
Tang JP; Department of Dermatology, Hunan Children's Hospital, Changsha 410007, China.
Jiang YL; Department of Dermatology, Hunan Children's Hospital, Changsha 410007, China.
Yue SZ; Department of Dermatology, Hunan Children's Hospital, Changsha 410007, China.
Zhou B; Department of Dermatology, Hunan Children's Hospital, Changsha 410007, China.
Wen R; Department of Dermatology, Hunan Children's Hospital, Changsha 410007, China.
Wei Z; Department of Dermatology, Hunan Children's Hospital, Changsha 410007, China.

Zhongguo Dang Dai Er Ke Za Zhi ; 25(4): 401-407, 2023 Apr 15.

Article en Zh | MEDLINE | ID: mdl-37073846

Asunto(s)

Deficiencia de Holocarboxilasa Sintetasa; Humanos; Masculino; Biotina/genética; Biotina/uso terapéutico; Deficiencia de Holocarboxilasa Sintetasa/genética; Deficiencia de Holocarboxilasa Sintetasa/diagnóstico; Deficiencia de Holocarboxilasa Sintetasa/tratamiento farmacológico; Homocigoto; Mutación; Enfermedades Raras/tratamiento farmacológico; Lactante

Palabras clave

Biotinidase deficiency; Child; HLCS gene; Holocarboxylase synthetase deficiency; Multiple carboxylase deficiency

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Deficiencia de Holocarboxilasa Sintetasa Tipo de estudio: Diagnostic_studies Límite: Humans / Infant / Male Idioma: Zh Año: 2023 Tipo del documento: Article

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