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Article

∆⁴-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid

Oral cholic acid therapy is an effective therapy in children with primary bile acid synthesis deficiencies. Most reported patients with this treatment have 3β-hydroxy-Δ⁵-C₂₇-steroid oxidoreductase deficiency. The...

Antoine Gardin, Mathias Ruiz, Jan Beime, Mara Cananzi… in Orphanet Journal of Rare Diseases (2023)