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Results 1 - 3 of 3 for Inborn disorder of bile acid synthesis
  1. HSD3B7 gene 
    ... N. Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency. ...
    https://medlineplus.gov/genetics/gene/hsd3b7 - Genetics
  2. CYP27A1 gene 
    ... Central Bjorkhem I, Hansson M. Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge. Biochem ...
    https://medlineplus.gov/genetics/gene/cyp27a1 - Genetics
  3. NSDHL gene 
    ... Porter FD, Herman GE. Malformation syndromes caused by disorders of cholesterol ... due to inborn errors of cholesterol synthesis. Curr Opin Pediatr. 2003 ...
    https://medlineplus.gov/genetics/gene/nsdhl - Genetics