Nancy C. O’Connell

Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.

Kenneth D.R. Setchell, Margrit Schwarz, Nancy C. O’Connell et al. · Journal of Clinical Investigation · 1998 · 377 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): Evidence for heterogeneity

L Bull, Victoria Carlton, N L Stricker et al. · Hepatology · 1997 · 278 citations

Medicine, Genetics, Pathology +17

Liver disease caused by failure to racemize trihydroxycholestanoic acid: Gene mutation and effect of bile acid therapy

Kenneth D.R. Setchell, James E. Heubi, Kevin E. Bove et al. · Gastroenterology · 2003 · 175 citations · Full text

Life Sciences, Genetics, Pharmacology +17

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

Genetic Defects in Bile Acid Conjugation Cause Fat-Soluble Vitamin Deficiency

Kenneth D.R. Setchell, James E. Heubi, Sohela Shah et al. · Gastroenterology · 2013 · 127 citations · Full text

Life Sciences, Genetics, Nutritional Sciences +12