Associated Papers
Clinical and Genetic Spectra of Progressive Familial Intrahepatic Cholestasis With Normal GGT: 31 Pediatric Patients and 16 Novel Variants.
Elkoofy NM et al.
Clinical Genetics, 2026
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
van Wessel DBE et al.
Hepatology (baltimore, Md.), 2021
33666275 (PubMed )
Supplement: HEP-74-892-s001.pdf
Long-term Outcomes of Living-donor Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 1.
Okamoto T et al.
Journal of Pediatric Gastroenterology and Nutrition, 2021
Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages.
Mizutani A et al.
Hepatology Communications, 2021
Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.
Zhang W et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2020
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis.
Sharma A et al.
Bmc Gastroenterology, 2018
Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages.
Hayashi H et al.
Ebiomedicine, 2018
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
Dröge C et al.
Journal of Hepatology, 2017
A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
Sharma A et al.
Indian Pediatrics, 2016
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
Wang NL et al.
Plos One, 2016
Hypothyroidism Associated with ATP8B1 Deficiency.
Li L et al.
The Journal of Pediatrics, 2015
Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.
van der Woerd WL et al.
Hepatology (baltimore, Md.), 2015
Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1.
Hasegawa Y et al.
Orphanet Journal of Rare Diseases, 2014
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Klomp LW et al.
Hepatology (baltimore, Md.), 2004
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