Severe Bile Salt Export Pump Deficiency 82 Different ABCB11 Mutations in 109 Families

10 publications in the local catalog that cite this work (OpenAlex reference match; not the full global list).

1. 2010 Mutations in VIPAR cause an arthrogryposis renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarizationCitations 184 · OpenAlex
2. 2020 Genotype correlates with the natural history of severe bile salt export pump deficiencyCitations 141 · OpenAlex
3. 2020 Genotype correlates with the natural history of severe bile salt export pump deficiencyCitations 137 · OpenAlex
4. 2021 Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 DeficiencyCitations 63 · OpenAlex
5. 2021 Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 DeficiencyCitations 60 · OpenAlex
6. 2021 The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP DeficienciesCitations 37 · OpenAlex
7. 2022 Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiencyCitations 23 · OpenAlex
8. 2022 The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrumCitations 3 · OpenAlex
9. 2018 Progressive familial intrahepatic cholestasis in childrenCitations 1 · OpenAlex
10. 2020 Combination of Novel c.3484G T/p.Glu162Ter Variant in ABCB11 and c.208G A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic CholestasisCitations 0 · OpenAlex