Antonia Felzen
- Pediatric Hepatobiliary Diseases and Treatments
- Drug Transport and Resistance Mechanisms
- Liver Diseases and Immunity
- Recycling and Waste Management Techniques
- Biomedical Research and Pathophysiology
- Digestive system and related health
- Genetics and Neurodevelopmental Disorders
- Belt Conveyor Systems Engineering
- Gastroesophageal reflux and treatments
University Medical Center Groningen
2021-2023
University of Groningen
2021-2023
University of Ottawa
2022
Children's Hospital of Eastern Ontario
2022
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in
<h3>Background</h3> Progressive familial intrahepatic cholestasis (PFIC) is a group of rare cholestatic liver diseases characterised by intractable pruritus, elevated serum bile acids (sBAs), and progressive damage. NAPPED (NAtural course Prognosis PFIC Effect biliary Diversion) large retrospective database investigating the natural history PFIC. Odevixibat, an ileal acid transporter inhibitor, reduced sBAs pruritus in patients with phase 3 PEDFIC 1 2 studies. We compared clinical outcomes...