An infant with 3 β‐hydroxy‐Δ5‐C₂₇‐steroid dehydrogenase/isomerase deficiency presenting with typical neonatal hepatitis syndrome: The first Japanese case

Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids.

Peter T. Clayton, J V Leonard, A. M. Lawson et al. · Journal of Clinical Investigation · 1987 · 218 citations · Full text

Medicine, Biochemistry, Food Analysis +16

A new cause of progressive intrahepatic cholestasis: 3β-Hydroxy-C27-steroid dehydrogenase/isomerase deficiency

Emmanuel Jacquemin, Kenneth D.R. Setchell, Nancy C. O’Connell et al. · The Journal of Pediatrics · 1994 · 128 citations

Life Sciences, Biochemistry, Internal Medicine +13

Bile acids and bile alcohols in a child with hepatic 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment

Hitoshi Ichimiya, B Egestad, Hisham M. Nazer et al. · Journal of Lipid Research · 1991 · 89 citations · Full text

Medicine, Biochemistry, Pharmacology +17

Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism.

Marie S. Buchmann, E. A. Kvittingen, Hisham M. Nazer et al. · Journal of Clinical Investigation · 1990 · 86 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Treatment of chronic liver disease caused by 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency with chenodeoxycholic acid.

Hitoshi Ichimiya, Hisham M. Nazer, Thirumazhisai S. Gunasekaran et al. · Archives of Disease in Childhood · 1990 · 60 citations · Full text

Medicine, Biochemistry, Pediatrics +17