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The Journal of Clinical Investigation|December 1, 1990
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 metabolismM S Buchmann, E A Kvittingen, H Nazer, et al.Archives of Disease in Childhood|May 25, 2004
The significance of a high plasma ammonia valueS L Chow, V Gandhi, S Krywawych, et al.Archives of Disease in Childhood|October 1, 1993
Cystic fibrosis presenting as kwashiorkor with florid skin rashR J Phillips, C M Crock, M J Dillon, et al.The British Journal of Ophthalmology|April 1, 1989
Leber's congenital amaurosis--a new syndrome with a cardiomyopathyI M Russell-Eggitt, D S Taylor, P T Clayton, et al.European Journal of Pediatrics|May 1, 1991
Pellagra with colitis due to a defect in tryptophan metabolismP T Clayton, N A Bridges, D J Atherton, et al.Steroids|January 1, 1985
An enzyme-linked immunosorbent assay for fetal steroid binding protein of human serumM J Iqbal, A Forbes, T P Corbishley, et al.Gut|September 13, 2003
Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancyH A Lemonde, E J Custard, J Bouquet, et al.Journal of Inherited Metabolic Disease|January 1, 1994
Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delayP T Clayton, S Eckhardt, J Wilson, et al.Journal of Inherited Metabolic Disease|January 1, 1996
Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidationP T Clayton, A W Johnson, K A Mills, et al.The Journal of Clinical Investigation|April 1, 1987
Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acidsP T Clayton, J V Leonard, A M Lawson, et al.Pageof 13