Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures.

Chen, Rong; Yang, Feng-Xia; Tan, Yan-Fang; Deng, Mei; Li, Hua; Xu, Yi; Ouyang, Wen-Xian; Song, Yuan-Zong

Chen, Rong; Yang, Feng-Xia; Tan, Yan-Fang; Deng, Mei; Li, Hua; Xu, Yi; Ouyang, Wen-Xian; Song, Yuan-Zong.

Afiliação

Chen R; Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, 510630, China.
Yang FX; Department of Infectious Diseases, Guangzhou Women and Children's Medical Center, Guangzhou, 510120, China.
Tan YF; Department of Hepatopathy, Hunan Children's Hospital, Changsha, 410007, China.
Deng M; Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, 510630, China.
Li H; Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, 510630, China.
Xu Y; Department of Infectious Diseases, Guangzhou Women and Children's Medical Center, Guangzhou, 510120, China.
Ouyang WX; Department of Hepatopathy, Hunan Children's Hospital, Changsha, 410007, China. 3441325922@qq.com.
Song YZ; Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, 510630, China. songyuanzong@hotmail.com.

Orphanet J Rare Dis ; 17(1): 445, 2022 12 22.

Article em En | MEDLINE | ID: mdl-36550572

Assuntos

Colestase Intra-Hepática; Icterícia; Masculino; Feminino; Humanos; Hepatomegalia/genética; Hepatomegalia/tratamento farmacológico; Esplenomegalia/tratamento farmacológico; Colestase Intra-Hepática/tratamento farmacológico; Colestase Intra-Hepática/genética; Colestase Intra-Hepática/diagnóstico; Ácido Ursodesoxicólico/uso terapêutico; Icterícia/tratamento farmacológico; Prurido/tratamento farmacológico

Palavras-chave

ABCB4 gene; Novel variants; Progress familial intrahepatic cholestasis type 3 (PFIC3)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colestase Intra-Hepática / Icterícia Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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