Progressive Familial Intrahepatic Cholestasis 1
What's New
Last Posted: Jan 05, 2021
- Molecular overview of progressive familial intrahepatic cholestasis.
Amirneni Sriram et al. World journal of gastroenterology 2020 Dec 26(47) 7470-7484 - Biopsy Validated Study of Biomarkers for Liver Fibrosis and Transplant Prediction in Inherited Cholestasis.
Shiau Henry et al. Hepatology communications 2020 Oct 4(10) 1516-1526 - Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.
de Vries Elsemieke et al. Liver international : official journal of the International Association for the Study of the Liver 2020 Sep - 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 - Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management.
Schonfeld Emily A et al. The Medical clinics of North America 2019 Nov 103(6) 991-1003 - Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges.
Chen Huey-Ling et al. The Journal of pediatrics 2018 Oct - Systematic review of progressive familial intrahepatic cholestasis.
Baker Alastair et al. Clinics and research in hepatology and gastroenterology 2018 Sep - Genetic Testing in Liver Disease: What to Order, in Whom, and When.
Schonfeld Emily A et al. Clinics in liver disease 2017 Nov 21(4) 673-686 - Clinical utility gene card for: progressive familial intrahepatic cholestasis type 1.
- Clinical utility gene card for: progressive familial intrahepatic cholestasis type 2.
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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
- Content source: