Results 101 to 110 of about 116,093 (277)

Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ‐glutamyltransferase cholestasis

Hepatology, 2017
Hereditary cholestasis in childhood and infancy with normal serum gamma‐glutamyltransferase (GGT) activity is linked to several genes. Many patients, however, remain genetically undiagnosed.
Y. Qiu, J. Gong, Jiayan Feng, Renxue Wang, Jun Han, Teng Liu, Yi Lu, Li-Ting Li, Meihong Zhang, Jonathan A. Sheps, Neng-Li Wang, Yani Yan, Jia-Qi Li, Lian Chen, C. Borchers, B. Sipos, A. Knisely, V. Ling, Qing-He Xing, Jian-She Wang   +19 more
semanticscholar   +1 more source

Deficiency of Capicua disrupts bile acid homeostasis [PDF]

, 2018
Capicua (CIC) has been implicated in pathogenesis of spinocerebellar ataxia type 1 and cancer in mammals; however, the in vivo physiological functions of CIC remain largely unknown.
Choi, N, Fryer, JD, Hwang, D, Jung, HY, Kang, H, Kim, E, KIM, KYONG TAI, Kim, S, Lee, J, LEE, YOONTAE, Park, S, Yoe, J, Zoghbi, HY   +12 more
core   +2 more sources

Study On Plasma Exosome Biomarkers Of Pregnant Women With Intrahepatic Cholestasis of Pregnancy [PDF]

, 2021
Fan Feng, Mei Jiang, Wei Liu, Di Xu, Xiao-Mei Huang, Yong Shao   +5 more
openalex   +1 more source

Thrombocytopenia at Birth Is a Predictor of Cholestasis in Infants with Small for Gestational Age [PDF]

, 2013
Cholestasis and thrombocytopenia are complications that affect infants born small for gestational age (SGA). In SGA infants, other vital organs develop at the expense of the liver, and the thrombopoietin produced by the liver is low, often resulting in ...
Kageyama, Misao, Maruyama, Hidehiko, Nakamura, Makoto, Yonemoto, Naohiro   +3 more
core   +1 more source

Liver transplantation for arteriohepatic dysplasia (Alagille's syndrome) [PDF]

, 1992
Thirteen out of 268 children (
Borland, L, Carone, E, ChapChap, P, Esquivel, CO, Marino, IR, Rowe, MI, Starzl, TE, Todo, S, Tzakis, AG, Zetti, G   +9 more
core   +1 more source

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

Nature Communications, 2016
Neonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive familial intrahepatic cholestasis, but known genes cannot account for all familial cases.
N. Gomez-Ospina, C. Potter, Rui Xiao, Kandamurugu Manickam, Mi‐Sun Kim, K. Kim, B. Shneider, J. Picarsic, Theodora Jacobson, Jing Zhang, Weimin He, Pengfei Liu, A. Knisely, M. Finegold, D. Muzny, E. Boerwinkle, J. Lupski, S. Plon, R. Gibbs, C. Eng, Yaping Yang, Gabriel Washington, M. Porteus, W. Berquist, N. Kambham, Ravinder J Singh, F. Xia, G. Enns, D. Moore   +28 more
semanticscholar   +1 more source

Neonatologie/Pädiatrie – Leitlinie Parenterale Ernährung, Kapitel 13 [PDF]

, 2009
There are special challenges in implementing parenteral nutrition (PN) in paediatric patients, which arises from the wide range of patients, ranging from extremely premature infants up to teenagers weighing up to and over 100 kg, and their varying ...
Bauer, Karl, Böhles, Hansjosef, Fusch, Christoph, Jochum, Frank, Koletzko, Berthold, Krawinkel, Michael, Krohn, Kathrin, Mühlebach, Stefan   +7 more
core  

Additional file 2 of Chronic cholestasis detection by a novel tool: automated analysis of cytokeratin 7-stained liver specimens

, 2021
Nelli Sjöblom, Sonja Boyd, Anniina Manninen, Anna Knuuttila, Sami Blom, Martti Färkkilâ, Johanna Arola   +6 more
openalex   +1 more source

Progressive familial intrahepatic cholestasis: diagnosis, management, and treatment

Hepatic Medicine : Evidence and Research, 2018
Progressive familial intrahepatic cholestasis (PFIC) is a group of autosomal recessive cholestatic liver diseases which are subgrouped according to the genetic defect, clinical presentation, laboratory findings and liver histology.
M. Gunaydın, Asudan Tugce Bozkurter Cil
semanticscholar   +1 more source

Case Report: Intrahepatic cholestasis: a diagnostic dilemma [version 2; peer review: 1 approved, 3 approved with reservations]

Wellcome Open Research
Cholestasis is an impairment of bile formation or bile flow. The mechanisms of cholestasis can be broadly classified into intrahepatic and extrahepatic.
Janak Koirala, Bimal Pandey, Sudeep Adhikari, Ram Chandra Panthi, Buddha Basnyat, Roshan Shrestha, Udit Acharya   +6 more
doaj   +1 more source