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Title

Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey

Authors
Jahnel, Jörg
Zöhrer, Evelyn
Fischler, Björn
D'Antiga, Lorenzo
Debray, Dominique
Dezsofi, Antal
Haas, Dorothea
Hadzic, Nedim
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Published in Journal of Pediatric Gastroenterology and Nutrition. 2017, vol. 64, no. 6, p. 864-868
Abstract Inborn errors of primary bile acid (BA) synthesis are genetic cholestatic disorders leading to accumulation of atypical BA with deficiency of normal BA. Unless treated with primary BA, chronic liver disease usually progresses to cirrhosis and liver failure before adulthood. We sought to determine the prevalence of 2 common disorders, 3β-hydroxy-Δ-C27-steroid dehydrogenase (3β-HSD) and Δ-3-oxosteroid-5β-reductase (Δ-3-oxoR) deficiencies and to describe current diagnostic and treatment strategies among different European paediatric hepatology centres.
Keywords Adrenal HyperplasiaCongenital/diagnosis/epidemiology/therapyEurope/epidemiologyHealth SurveysHumansOxidoreductases/deficiencyPrevalenceSteroid MetabolismInborn Errors/diagnosis/epidemiology/therapy
Identifiers
PMID: 28267072
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Structures
Research group Développement du tube digestif chez les vertébrés (900)
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JAHNEL, Jörg et al. Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey. In: Journal of Pediatric Gastroenterology and Nutrition, 2017, vol. 64, n° 6, p. 864-868. https://archive-ouverte.unige.ch/unige:107753

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Deposited on : 2018-09-13

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