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Results 1 - 5 of 5 for Inborn disorder of bile acid synthesis
  1. Congenital bile acid synthesis defect type 1 
    ... N. Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency. J Pediatr Gastroenterol Nutr. 2010 Jan;50(1):61-6. doi: 10.1097/MPG.0b013e3181b47b34. Citation on PubMed
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-1 - Genetics
  2. Congenital bile acid synthesis defect type 2 
    ... SYNTHESIS DEFECT, CONGENITAL, 2; CBAS2 PubMed Clayton PT. Disorders of bile acid synthesis. J Inherit Metab Dis. 2011 Jun;34(3): ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-2 - Genetics
  3. 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
  4. 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
  5. 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