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Progressive familial intrahepatic cholestasis.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Progressive familial intrahepatic cholestasis.
- Published in:
- Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-1
- By:
- Publication type:
- Article
In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810758
- By:
- Publication type:
- Article
RAB10 Interacts with ABCB4 and Regulates Its Intracellular Traffic.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 7087, doi. 10.3390/ijms22137087
- By:
- Publication type:
- Article
Molecular Regulation of Canalicular ABC Transporters.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2113, doi. 10.3390/ijms22042113
- By:
- Publication type:
- Article
Na<sup>+</sup>-Dependent and Na<sup>+</sup>-Independent Bile Acid Uptake Systems in the Liver.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 1994, v. 4, n. 5/6, p. 198, doi. 10.1159/000154726
- By:
- Publication type:
- Article
Primary bile acid therapy during pregnancy in patients with 3β-hydroxy-Δ<sup>5</sup>-C<sub>27</sub>-steroid oxidoreductase deficiency.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Primary bile acid therapy during pregnancy in patients with 3β-hydroxy-Δ<sup>5</sup>-C<sub>27</sub>-steroid oxidoreductase deficiency.
- Published in:
- Pediatrics International, 2011, v. 53, n. 5, p. 792, doi. 10.1111/j.1442-200X.2011.03416.x
- By:
- Publication type:
- Article
Epstein-Barr Virus Infection and Altered Control of Apoptotic Pathways in Posttransplant Lymphoproliferative Disorders.
- Published in:
- Pathobiology, 2012, v. 80, n. 2, p. 53, doi. 10.1159/000339722
- By:
- Publication type:
- Article
Compound Heterozygous PKHD1 Variants Cause a Wide Spectrum of Ductal Plate Malformations.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3046, doi. 10.1002/ajmg.a.37352
- By:
- Publication type:
- Article
CD25 Appears Non Essential for Human Peripheral T<sub>reg</sub> Maintenance In Vivo.
- Published in:
- PLoS ONE, 2010, v. 5, n. 7, p. 1
- By:
- Publication type:
- Article
Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Inherited CARD9 Deficiency in 2 Unrelated Patients With Invasive Exophiala Infection.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Molecular Genetics of 3β-Hydroxy-Λ<sup>5</sup>-C27-Steroid Oxidoreductase Deficiency in 16 Patients with Loss of Bile Acid Synthesis and Liver Disease.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 4, p. 1833, doi. 10.1210/jc.2002-021580
- By:
- Publication type:
- Article
Disrupted BMP-9 Signaling Impairs Pulmonary Vascular Integrity in Hepatopulmonary Syndrome.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2024, v. 210, n. 5, p. 648, doi. 10.1164/rccm.202307-1289OC
- By:
- Publication type:
- Article
Effect of Ursodeoxycholic Acid on the Expression of the Hepatocellular Bile Acid Transporters (Ntcp and bsep) in Rats With Estrogen-Induced Cholestasis.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Anti-CD20 monoclonal antibody (Rituximab) treatment for Epstein-Barr virus-associated, B-cell lymphoproliferative disease in pediatric liver transplant recipients.
- Published in:
- 2002
- By:
- Publication type:
- journal article
CFCI gene mutation and biliary atresia with polysplenia syndrome.
- Published in:
- 2002
- By:
- Publication type:
- Case Study
Pattern of Expression of γ-Glutamyl Transpeptidase in Rat Liver and Kidney During Development.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 1990, v. 11, n. 1, p. 89
- By:
- Publication type:
- Article
Aspergillus fumigatus endocarditis in a pediatric liver transplant recipient: Favorable outcome without cardiac surgery.
- Published in:
- Pediatric Transplantation, 2009, v. 13, n. 5, p. 636, doi. 10.1111/j.1399-3046.2008.00929.x
- By:
- Publication type:
- Article
Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 2.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.187
- By:
- Publication type:
- Article
Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 3.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.188
- By:
- Publication type:
- Article
Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 1.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.186
- By:
- Publication type:
- Article
Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01173-0
- By:
- Publication type:
- Article
Effect of CFTR correctors on the traffic and the function of intracellularly retained ABCB4 variants.
- Published in:
- Liver International, 2021, v. 41, n. 6, p. 1344, doi. 10.1111/liv.14839
- By:
- Publication type:
- Article
Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency.
- Published in:
- Liver International, 2020, v. 40, n. 8, p. 1917, doi. 10.1111/liv.14518
- By:
- Publication type:
- Article
Liver disease related to alpha1‐antitrypsin deficiency in French children: The DEFI‐ALPHA cohort.
- Published in:
- Liver International, 2019, v. 39, n. 6, p. 1136, doi. 10.1111/liv.14035
- By:
- Publication type:
- Article
Mutations in the novel gene <italic>FOPV</italic> are associated with familial autosomal dominant and non‐familial obliterative portal venopathy.
- Published in:
- Liver International, 2018, v. 38, n. 2, p. 358, doi. 10.1111/liv.13547
- By:
- Publication type:
- Article
In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Identification of new correctors for traffic-defective ABCB4 variants by a high-content screening approach.
- Published in:
- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06590-y
- By:
- Publication type:
- Article
Homozygosity Mapping of a Locus for a Novel Syndromic Ichthyosis to Chromosome 3q27–q28.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 119, n. 1, p. 70, doi. 10.1046/j.1523-1747.2002.01809.x
- By:
- Publication type:
- Article
Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome.
- Published in:
- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0147750
- By:
- Publication type:
- Article
Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2024, v. 78, n. 5, p. 1203, doi. 10.1002/jpn3.12171
- By:
- Publication type:
- Article
Liver Histology Before Treatment Withdrawal in Autoimmune Hepatitis: Is It Time to Review the ESPGHAN Recommendations?
- Published in:
- 2023
- By:
- Publication type:
- Letter
Efficacy and Safety of Endoscopic Primary Prophylaxis of Bleeding in Children With High-Risk Gastroesophageal Varices.
- Published in:
- 2022
- By:
- Publication type:
- journal article
A Model for Early Endoscopic Detection of High-Risk Gastroesophageal Varices in Children With Biliary Atresia.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Seronegative Autoimmune Hepatitis-associated Severe Aplastic Anemia: Looking for the Best Treatment.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Glycerol Phenylbutyrate Therapy in Progressive Familial Intrahepatic Cholestasis Type 2.
- Published in:
- 2020
- By:
- Publication type:
- Letter
A Novel CFC1 Mutation in a Family With Heterotaxy and Biliary Atresia Splenic Malformation Syndromes.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Management of Biliary Atresia in France 1986 to 2015: Long-term Results.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Cholic Acid to Treat HSD3B7 and AKR1D1 Deficiencies.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Bile Acid Synthesis Disorders in Arabs: A 10-year Screening Study.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Abdominal Arterial Anomalies in Children With Alagille Syndrome: Surgical Aspects and Outcomes of Liver Transplantation.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Sertraline as an Additional Treatment for Cholestatic Pruritus in Children.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Oral Tocofersolan Corrects or Prevents Vitamin E Deficiency in Children With Chronic Cholestasis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Serum Autotaxin Activity Correlates With Pruritus in Pediatric Cholestatic Disorders.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Progression to High-Risk Gastroesophageal Varices in Children With Biliary Atresia With Low-Risk Signs at First Endoscopy.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 5, p. 664, doi. 10.1097/MPG.0000000000000710
- By:
- Publication type:
- Article
Acute leukemia presenting as acute hepatitis without liver failure.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article