References
- Bhattacharyya A K, Connor W E. β-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest 1974; 53: 1033–43
- Salen G, Shefer S, Berginer V M. Familial diseases with storage of sterols other than cholesterol: Cerebrotendinous xanthomatosis and sito-sterolemia with xanthomatosis. The Metabolic Basis of Inherited Disease, J B Stanbury, J B Wyngaarden, D S Fredrickson, J L Goldstein, M S Brown. McGraw-Hill, New York 1983; 713–30
- Miettinen T A. Phytosterolemia, xanthomatosis and premature atherosclerotic arterial disease: A case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis. Eur J Clin Invest 1980; 10: 27–35
- Salen G, Kwiterovich P O, Jr., Shefer S, Tint G S, Horak I, Shore V, Dayal B, Horak E. Increased plasma cholestanol and 5α-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis. J Lipid Res 1985; 26: 203–9
- Karlaganis G, Almé B, Karlaganis V, Sjövall J. Bile alcohol glucuronides in urine. Identification of 27-nor-5β-cholestane-3α,7α, 12α,24ε,25ε-pentol in man. J Steroid Biochem 1981; 14: 341–5
- Ludwig-Köhn H, Henning H V, Sziedat A, Matthaei D, Spiteller G, Reiner J, Egger H-J. The identification of urinary bile alcohols by gas chromatography-mass spectrometry in patients with liver disease and in healthy individuals. Eur J Clin Invest 1983; 13: 91–8
- Kuwabara M, Ushiroguchi T, Kihira K, Kuramoto T, Hoshita T. Identification of bile alcohols in urine from healthy humans. J Lipid Res 1984; 25: 361–8
- Karlaganis G, Nemeth A, Hammarskjöld B, Strandvik B, Sjövall J. Urinary excretion of bile alcohols in normal children and patients with α1 antitrypsin deficiency during development of liver disease. Eur J Clin Invest 1982; 12: 399–405
- Karlaganis G, Zaugg P-Y. Glucuronidation of bile alcohols in liver disease. Advances in Glucuronide Conjugation, K W Bock, S Matern, W Gerok. MTP Press, Lancaster 1984; 269–74
- Egestad B, Pettersson P, Skrede S, Sjövall J. Fast atom bombardment mass spectrometry in the diagnosis of cerebrotendinous xanthomatosis. Scand J Clin Lab Invest 1985; 45: 443–6
- Setoguchi T, Sàlen G, Tint G S, Mosbach E H. A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid biosynthesis associated with incomplete degradation of the cholesterol side chain. J Clin Invest 1974; 53: 1393–1401
- Oftebro H, Björkhem I, Skrede S, Schreiner A, Pedersen J I. Cerebrotendinous xanthomatosis. A defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid. J Clin Invest 1980; 65: 1418–30
- Kachadurian A K, Sàlen G. Familial phytosterolemia: Cholestanolemia and abnormal bile salt composition. Clin Res 1980; 28: 397A
- Dayal B, Tint G S, Toome V, Batta A K, Shefer S, Salen G. Synthesis and structure of 26 (or 27)-nor-5β-cholestane-3α,7α,12α,24S,25 ε-pentol isolated from the urine and feces of a patient with sitosterolemia and xanthomatosis. J Lipid Res 1985; 26: 298–305
- Setchell K DR, Ives J A, Lawson A M, Kayden H J. Fecal bile acid and sterol excretion in a case of phytosterolemia. Falk-Symposium no. 42. VIII International Bile Acid Meeting, Berne. Abstract. 1984; 84
- Skrede S, Björkhem I, Kvittingen E A, Buchmann M S, Lie S O, East C, Grundy S. Demonstration of 26-hydroxylation of C27-steroids in human skin fibroblasts, and a deficiency of this activity in cerebrotendinous xanthomatosis. J Clin Invest 1986; 78: 729–35
- Björkhem I, Gustafsson J. ω-Hydroxylation of steroid side-chain in biosynthesis of bile acids. Eur J Biochem 1973; 36: 201–12