Familial NTCPD presenting with persistent hypercholanemia and co-existing with a series of novel heterozygous mutations - 08/08/24
Doi : 10.1016/j.clinre.2024.102444
Meifen Wang a, 1, Lin Zhou b, 1, Qian Zhang c, Juan Li d, Junchao Peng a, Rui Chen a, Qi Shao a, Zhongrui Bi a, Mingying Wang d, ⁎ 
, Jiwei Li e, ⁎
, Jiwei Li e, ⁎ a 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
b 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
c 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
d 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
e 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
⁎Corresponding authors at: Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease, 288 Qianxing Road, Kunming 650228, PR China.Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease288 Qianxing RoadKunming650228PR China
Keywords : Sodium taurocholate cotransporter polypeptide deficiency, SLC10A1 gene, Persistent hypercholanemia, Transient cholestatic hepatitis
Abbreviations : NTCPD, SLC10A1, TBIL, DBIL, IBIL, TBA, AST, ALT, TSH, ALP, VD, T3, fT3, CVID, IDD, ALPS
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© 2024
Pubblicato da Elsevier Masson SAS.
Vol 48 - N° 8
Articolo 102444- Ottobre 2024 Ritorno al numero
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