Jernej Brecelj
Ljubljana, Slovenia
Last Updated: 09/26/2026
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Found 27 publications
European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) position paper on screening, diagnosis and investigation of paediatric metabolic dysfunction-associated steatotic liver disease.
Journal: Journal of pediatric gastroenterology and nutrition
Published: December 11, 2025
Condition-Specific Growth Charts for Children With Alagille Syndrome.
Journal: JAMA network open
Published: November 24, 2025
Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines.
Journal: Liver international : official journal of the International Association for the Study of the Liver
Published: February 03, 2025
Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.
Journal: Hepatology (Baltimore, Md.)
Published: August 09, 2023
Role of endoscopic ultrasound-guided fine needle aspiration biopsies in diagnosing pancreatic neoplasms in the paediatric population: experience from a tertiary center and review of the literature.
Journal: Radiology and oncology
Published: July 14, 2023
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review.
Journal: Molecular genetics and metabolism reports
Published: April 07, 2023
The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene.
Journal: Frontiers in pediatrics
Published: December 27, 2022
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
Journal: JHEP reports : innovation in hepatology
Published: August 09, 2022
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study.
Journal: Hepatology (Baltimore, Md.)
Published: November 29, 2021
Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant.
Journal: Molecular genetics and metabolism reports
Published: November 02, 2021
Non-Alcoholic Fatty Liver Disease in Children.
Journal: Medicina (Kaunas, Lithuania)
Published: June 23, 2021
Last Updated: 09/26/2026