D-bifunctional protein deficiency caused by <i>HSD17B4</i> gene mutation in a neonate.

Yang, Shu-Mei; Cao, Chuan-Ding; Ding, Ying; Wang, Ming-Jie; Yue, Shao-Jie

D-bifunctional protein deficiency caused by HSD17B4 gene mutation in a neonate. / HSD17B4åºå çªåè´D-ååè½èç½ç¼ºä¹ç.

Yang, Shu-Mei; Cao, Chuan-Ding; Ding, Ying; Wang, Ming-Jie; Yue, Shao-Jie.

Afiliação

Yang SM; Department of Neonatology, Xiangya Hospital, Central South University, Changsha 410008, China (Yue S-J, Email: shaojieyue@163.com).
Cao CD; Department of Neonatology, Xiangya Hospital, Central South University, Changsha 410008, China (Yue S-J, Email: shaojieyue@163.com).
Ding Y; Department of Neonatology, Xiangya Hospital, Central South University, Changsha 410008, China (Yue S-J, Email: shaojieyue@163.com).
Wang MJ; Department of Neonatology, Xiangya Hospital, Central South University, Changsha 410008, China (Yue S-J, Email: shaojieyue@163.com).
Yue SJ; Department of Neonatology, Xiangya Hospital, Central South University, Changsha 410008, China (Yue S-J, Email: shaojieyue@163.com).

Zhongguo Dang Dai Er Ke Za Zhi ; 23(10): 1058-1063, 2021 Oct 15.

Article em En, Zh | MEDLINE | ID: mdl-34719423

Assuntos

Hipotonia Muscular; Deficiência de Proteína; Testes Genéticos; Humanos; Recém-Nascido; Masculino; Mutação; Proteína Multifuncional do Peroxissomo-2/genética; Deficiência de Proteína/genética

Palavras-chave

D-bifunctional protein deficiency; Neonate; Seizure; Very-long-chain fatty acid

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiência de Proteína / Hipotonia Muscular Tipo de estudo: Prognostic_studies Limite: Humans / Male / Newborn Idioma: En / Zh Ano de publicação: 2021 Tipo de documento: Article

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