Sodium taurocholate cotransporter polypeptide deficiency from two pairs of twins with homozygous and heterozygous of p.Ser267Phe variant, respectively: Case report - 07/03/24
Doi : 10.1016/j.clinre.2024.102303
Meifen Wang a, 1, Tao Chen b, 1, Meirui Li c, Rui Chen a, Junchao Peng a, Jiwei Li d, ⁎ 
a Department of Infectious Diseases
b Department of Stomatology, The Affiliated Hospital of Yunnan Normal University, Kunming, People's Republic of China
c Department of Nutrition
d 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 650228, People's Republic of China.
⁎Corresponding author.
Keywords : Sodium taurocholate cotransporter polypeptide deficiency, SLC10A1 gene, Hypercholanemia, Hyperbilirubinemia, Bile acid
Abbreviations : NTCPD, SLC10A1, TBIL, DBIL, IBIL, TBA, AST, ALT, TSH, ALP, VD, ZS, CMV, DD
Il testo completo di questo articolo è disponibile in PDF.
Mappa
© 2024
Elsevier Masson SAS. Tutti i diritti riservati.
Vol 48 - N° 3
Articolo 102303- Marzo 2024 Ritorno al numero
Articolo precedente
- Aspirin for non alcoholic fatty liver disease: Promising but inconclusive–A letter to the editor
- Hafiz Muhammad Sohaib Hayat, Hamza Naeem
Benvenuto su EM|consulte, il riferimento dei professionisti della salute.
L'accesso al testo integrale di questo articolo richiede un abbonamento.
Già abbonato a @@106933@@ rivista ?