Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood.

Emmanuel GonzalesLorenza MatarazzoStéphanie Franchi-AbellaAlain DabadieJoseph CohenDalila HabesSophie HillaireCatherine GuettierAnne-Marie TaburetAnne MyaraEmmanuel Jacquemin

Published in: Orphanet journal of rare diseases (2018)

Oral CA therapy is a safe and effective long-term treatment of 3β-HSD and Δ4-3-oxo-R deficiencies and allows affected children to reach adulthood in good health condition without the need for a liver transplantation.

Keyphrases

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mesenchymal stem cells
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combination therapy