Articles with "synthesis defects" as a keyword



Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects

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Published in 2025 at "Journal of Inherited Metabolic Disease"

DOI: 10.1002/jimd.70062

Abstract: Bile acid synthesis defects (BASDs) comprise a group of rare, often severe, metabolic disorders. Bile acid replacement therapy decreases toxic bile acid intermediates production and improves biochemical profiles, potentially delaying or stabilizing disease progression. An… read more here.

Keywords: treatment; acid synthesis; synthesis defects; bile acid ... See more keywords