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