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

Abstract Background 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 aim of the study was the evaluation of cholic acid therapy in a coh...

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Principais autores: Antoine Gardin, Mathias Ruiz, Jan Beime, Mara Cananzi, Margarete Rathert, Barbara Rohmer, Enke Grabhorn, Marion Almes, Veena Logarajah, Luis Peña-Quintana, Thomas Casswall, Amaria Darmellah-Remil, Ana Reyes-Domínguez, Emna Barkaoui, Loreto Hierro, Carolina Baquero-Montoya, Ulrich Baumann, Björn Fischler, Emmanuel Gonzales, Anne Davit-Spraul, Sophie Laplanche, Emmanuel Jacquemin
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2023-12-01
coleção:Orphanet Journal of Rare Diseases
Assuntos:
Bile acid
Genetic cholestasis
AKR1D1
Acesso em linha:https://doi.org/10.1186/s13023-023-02984-z
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