Associated Papers
ATP8B1 Deficiency Causes Phosphodiesterase 4-Mediated Glucagon Resistance and Impaired Gluconeogenesis in Mouse and Human Liver.
Chang JC et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
Ileal Bile Acid Transporter Inhibition Reduces Post-Transplant Diarrhea and Growth Failure in FIC1 Disease-A Case Report.
Ohlendorf J et al.
Children (basel, Switzerland), 2022
The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.
Jeyaraj R et al.
Genes, 2021
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
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.
Rhee ES et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2019
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
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
Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.
Giovannoni I et al.
Plos One, 2015
Analysis of gene mutations in children with cholestasis of undefined etiology.
Matte U et al.
Journal of Pediatric Gastroenterology and Nutrition, 2010
Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis.
Liu C et al.
Gastroenterology, 2007
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Klomp LW et al.
Hepatology (baltimore, Md.), 2004
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