Results 101 to 110 of about 397 (122)

Primary sclerosing cholangitis complicated with ulcerative colitis and double gene mutations of UGT1A1 and SLC25A13: a case report. [PDF]

Front Med (Lausanne)
Shi Y, Chen K, Ye J, Yang M.
europepmc   +1 more source

Long-term follow-up of neurocognitive function in patients with citrin deficiency and cholestasis. [PDF]

Clin Exp Pediatr
Tsai MM, Chang JC, Lu HY, Gau SS, Chien YH, Hwu WL, Ni YH, Chen HL, Lee NC.   +8 more
europepmc   +1 more source

Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients

Journal of Inherited Metabolic Disease, 2010
AbstractCitrin deficiency, aetiologically linked to mutations of SLC25A13 gene, has two clinical phenotypes, namely adult‐onset type II citrullinaemia (CTLN2) and neonatal/infantile intrahepatic cholestasis, caused by citrin deficiency (NICCD). Malaysian patients with NICCD, especially of Malay and East Malaysian indigenous descent, have never been ...
Lock-Hock Ngu, Keiko Kobayashi
exaly   +6 more sources

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK

Journal of Inherited Metabolic Disease, 2009
SummaryCitrin deficiency is a disorder with two phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), and adult‐onset type II citrullinaemia (CTLN2). NICCD presents in the first few weeks of life with prolonged cholestasis and metabolic abnormalities including aminoacidaemia (notably citrulline, tyrosine, threonine ...
F Okumura, A Chakrapani, M A Preece
exaly   +4 more sources

Some of the next articles are maybe not open access.

Related searches:

Features of liver injury in 138 Chinese patients with NICCD

Journal of Pediatric Endocrinology and Metabolism, 2023
Abstract Objectives To find biochemical and molecular markers can assist in identifying serious liver damage of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) patients. Methods 138 patients under 13 days to 1.1 ...
Xiuzhen Li, Yanna Cai, Yunting Lin
exaly   +3 more sources

Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants

Journal of Pediatrics, 2006
To explore the prevalence of hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants with idiopathic intrahepatic cholestasis.The liver specimens from 69 infants with idiopathic intrahepatic cholestasis were reviewed (1993-2004); 11 of them (14.7%) had hepatic steatosis. Six patients with hepatic
Wuh-liang Hwu, Yen-Hsuan Ni, Chang Mei-hwei   +2 more
exaly   +3 more sources

Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2

Molecular Genetics and Metabolism, 2019
Identification of the genes responsible for adult-onset type II citrullinemia (CTLN2) and citrin protein function have enhanced our understanding of citrin deficiency. Citrin deficiency is characterized by 1) neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD); 2) adaptation/compensation stage with unique food preference from ...
Osamu Sakamoto, Toshihiro Ohura, Yoshiyuki Okano   +2 more
exaly   +3 more sources

Novel mutations in the SLC25A13 gene in a patient with NICCD and severe manifestations

Journal of Pediatric Endocrinology and Metabolism, 2015
AbstractNeonatal intrahepatic cholestatic due to citrin deficiency (NICCD) is an autosomal recessive disorder caused by mutations in ...
Sainan Shu, Zhihua Huang
exaly   +3 more sources

Neonatal intrahepatic cholestatis due to citrin deficiency (NICCD)

Tropical Gastroenterology: Official Journal of the Digestive Diseases Foundation, 2017
Ira Shah
exaly   +3 more sources