Results 141 to 150 of about 105,725 (272)

Progressive Familial Intrahepatic Cholestasis

Clinics in Liver Disease, 2018
Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now described. ATP8B1 encodes FIC1, ABCB11 encodes BSEP, ABCB4 encodes MDR3, TJP2 encodes TJP2, NR1H4 encodes FXR, and MYO5B encodes MYO5B. The full spectra of phenotypes associated with mutations in each gene are discussed, along with our understanding of ...
Bull, Laura N, Thompson, Richard J
openaire   +4 more sources

Recurrent Hypoglycaemia Leading to Early Diagnosis of Septo‐Optic Dysplasia in a Small‐for‐Gestational‐Age Infant—A Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Septo‐optic dysplasia (SOD) is a rare condition with highly heterogenous clinical manifestations and can be a diagnostic challenge. It can present with pituitary hormone deficiencies, growth failure, visual impairment, and neurological symptoms. SOD can be diagnosed at different time points—from the prenatal period to childhood. Our team cared
Yuan Rui Leon Tan, Xiaoao Dong, Ngee Lek, Suresh Chandran, Odattil Geetha   +4 more
wiley   +1 more source

Progressive familial intrahepatic cholestasis with normal GGT level appearing with lichenification and enlargement of hands and feet

The Turkish Journal of Pediatrics, 2005
Progressive familial intrahepatic cholestasis is a serious disease of the liver, known as Byler disease, characterized by hepatocellular cholestasis.
Tümay Doğanci, Gülen Akyol, Sevcan Bulaç   +2 more
doaj  

Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing

Annals of Hepatology, 2016
Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive cholestatic diseases of childhood and represents the main indication for liver transplantation at this age; PFIC2 involves ABCB11 gene, that encodes the ...
Giovanni Vitale, Martina Pirillo, Vilma Mantovani, Elena Marasco, Adelia Aquilano, Nesrine Gamal, Paola Francalanci, Fabio Conti, Pietro Andreone   +8 more
doaj   +1 more source

Enzymatic quantification of total serum bile acids as a monitoring strategy for women with intrahepatic cholestasis of pregnancy receiving ursodeoxycholic acid treatment: a cohort study

BJOG: an International Journal of Obstetrics and Gynaecology, 2019
To evaluate enzymatic total serum bile acid quantification as a monitoring strategy for women with intrahepatic cholestasis of pregnancy (ICP) treated with ursodeoxycholic acid (UDCA).
Luiza Borges Manna, Caroline Ovadia, A. Lövgren-Sandblom, J. Chambers, S. Begum, P. Seed, Ian A. L. Walker, L. Chappell, H. Marschall, C. Williamson   +9 more
semanticscholar   +1 more source

How to Better Assess the Real Role of the Environment in Pregnancy, From Past to Future: A Relational Open Data Infrastructure Covering 30,000 Births

Health Science Reports, Volume 9, Issue 2, February 2026.
ABSTRACT Background and Aims One of today's challenges in terms of understanding the real impact of the environment on pregnancy and its complications is the ability to work with real‐life data that are correctly and extensively connected to data on the contamination of living environments and individualized exposures.
Sophie Cot, Nadine Bernard, Berenger Martin, Honorine Gauthier‐Manuel, Sophie Pujol, Frederic Mauny, Nicolas Mottet   +6 more
wiley   +1 more source

Clinical aspects of pregnancy and childbirth in women with intrahepatic cholestasis of pregnancy

One Health & Risk Management
Introduction. Intrahepatic cholestasis of pregnancy (ICP) is a liver pathology that has negative impact on progression of pregnancy and childbirth in affected women.
Maria CEMORTAN, Irina SAGAIDAC, Corina ILIADI-TULBURE, Olga CERNETCHI   +3 more
doaj   +1 more source

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.

PLoS ONE, 2015
Familial intrahepatic cholestases (FICs) are a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
Isabella Giovannoni, Francesco Callea, Emanuele Bellacchio, Giuliano Torre, Jean De Ville De Goyet, Paola Francalanci   +5 more
doaj   +1 more source

Ursodeoxycholic acid therapy in children with cholestatic liver disease

The Turkish Journal of Pediatrics, 1999
The beneficial effect of ursodeoxycholic acid have been documented in adults but experience with this agent is limited in the pediatric population. The objective of this study was to evaluate ursodeoxycholic acid treatment in children with cholestatic ...
Gönül Dinler, Nurten Koçak, Aysel Yüce, Figen Gürakan, Hasan Özen   +4 more
doaj   +1 more source

Molecular mechanisms for fetal cardiac arrhythmia in intrahepatic cholestasis of pregnancy

, 2010
Intrahepatic cholestasis in pregnancy (ICP) is characterized by raised serum bile acids which can cause fetal complications, including preterm labour and intrauterine death. The fetal death in ICP is not well understood. In this thesis, the mechanisms of
Sheikh Abdul Kadir, Siti Hamimah, Sheikh Abdul Kadir, Siti Hamimah   +1 more
core   +1 more source