Familial NTCPD presenting with persistent hypercholanemia and co-existing with a series of novel heterozygous mutations.

Autor:	Wang M; Department of Infectious Diseases, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, PR China., Zhou L; Department of Nutrition, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, PR China., Zhang Q; Department of Clinical Laboratory, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, PR China., Li J; Department of Gastroenterology, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, PR China., Peng J; Department of Infectious Diseases, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, PR China., Chen R; Department of Infectious Diseases, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, PR China., Shao Q; Department of Infectious Diseases, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, PR China., Bi Z; Department of Infectious Diseases, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, PR China., Wang M; Department of Gastroenterology, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, PR China. Electronic address: wangmingying@etyy.cn., Li J; Department of Pathology, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, PR China. Electronic address: 360623155@qq.com.
Jazyk:	angličtina
Zdroj:	Clinics and research in hepatology and gastroenterology [Clin Res Hepatol Gastroenterol] 2024 Oct; Vol. 48 (8), pp. 102444. Date of Electronic Publication: 2024 Aug 05.
DOI:	10.1016/j.clinre.2024.102444
Abstrakt:	Competing Interests: Declaration of competing interest The authors declare that they have no conflict of interest.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu Full Text from ScienceDirect