Progressive Familial Intrahepatic Cholestasis Type 2
What's New
Last Posted: Mar 07, 2023
- ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
Reichert Matthias Christian, et al. Seminars in liver disease 2018 0 (4) 299-307 - Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing.
Yang Ye, et al. The Journal of molecular diagnostics : JMD 2021 0 (11) 1491-1499 - Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
van Wessel Daan B E, et al. Hepatology (Baltimore, Md.) 2021 0 (2) 892-906 - Progressive Familial Intrahepatic Cholestasis: Need for Genetic Analysis Before Liver Transplantation.
Lal Bikrant B, et al. Journal of clinical and experimental hepatology 2022 0 (2) 686-688 - A study of exons 14, 15, and 24 of the ABCB11 gene in Egyptian children with normal GGT cholestasis.
Selim Nora, et al. Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology 2022 0 (1) 15-19 - Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.
Nicastro Emanuele et al. The Journal of pediatrics 2019 21154-62.e4 - Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.
Imagawa Kazuo, et al. Journal of human genetics 2018 3 - Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3.
Fathy Mona, et al. Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals 2016 4 1-5 - Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.
Hu Guorui, et al. Molecular medicine reports 2014 9 (3) 1264-74 - Clinical utility gene card for: progressive familial intrahepatic cholestasis type 2.
- First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.
Pasmant Eric, et al. European journal of human genetics : EJHG 2012 3 (3) 277-82 - Progressive familial intrahepatic cholestasis type 2
From NCATS Genetic and Rare Diseases Information Center - Progressive familial intrahepatic cholestasis type 3
From NCATS Genetic and Rare Diseases Information Center - Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
Colombo Carla, et al. Journal of pediatric gastroenterology and nutrition 2011 1 (1) 73-83 - ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
Müllenbach R, et al. Gut 2005 6 (6) 829-34
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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