∆ 4 -3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.
Antoine GardinMathias RuizJan BeimeMara CananziMargarete RathertBarbara RohmerEnke GrabhornMarion AlmesVeena LogarajahLuis Peña-QuintanaThomas CasswallAmaria Darmellah-RemilAna Reyes-DomínguezEmna BarkaouiLoreto HierroCarolina Baquero-MontoyaUlrich BaumannBjörn FischlerEmmanuel GonzalesAnne Davit-SpraulSophie LaplancheEmmanuel JacqueminPublished in: Orphanet journal of rare diseases (2023)
-3-oxo-R deficiency.
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