Progressive Familial Intrahepatic Cholestasis Type 3
Author:
Affiliation:
1. Baylor College of Medicine, Houston, TX, USA
2. Emory University School of Medicine, Atlanta, GA, USA
Publisher
SAGE Publications
Subject
Pediatrics, Perinatology and Child Health
Link
http://journals.sagepub.com/doi/pdf/10.1177/0009922812451076
Reference6 articles.
1. Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis
2. The wide spectrum of multidrug resistance 3 deficiency: From neonatal cholestasis to cirrhosis of adulthood
3. Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene
4. The Spectrum of Liver Diseases Related toABCB4Gene Mutations: Pathophysiology and Clinical Aspects
5. The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene
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1. Wilson Disease: Diagnostic Challenges and Differential Diagnoses;Clinical & Translational Metabolism;2024-07-26
2. Reevaluating cholestasis: a case of PFIC3 diagnosed through whole genome sequencing after initial miss on cholestasis genetic panel;Gastroenterology & Hepatology: Open access;2024-06-10
3. Developmental and Inherited Liver Disease;MacSween's Pathology of the Liver;2024
4. Variable Intrafamilial Expression of ABCB4 Disease;ACG Case Reports Journal;2023-08
5. Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures;Orphanet Journal of Rare Diseases;2022-12-22
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