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Literature DB >> 4035280

Fast atom bombardment mass spectrometry in the diagnosis of cerebrotendinous xanthomatosis.

B Egestad, P Pettersson, S Skrede, J Sjövall.

Abstract

Urine from a patient with cerebrotendinous xanthomatosis (CTX) was extracted with a Sep-Pak C18 cartridge and the extract was analysed by fast atom bombardment mass spectrometry. The spectra indicated the presence of glucuronidated bile alcohols with four to seven hydroxyl groups. The method is simple and rapid and is suggested as an aid in the diagnosis of CTX with possible application to prenatal diagnosis.

Entities: Chemical Disease Species

Mesh：

Substances：
Alcohols

Year: 1985 PMID： 4035280 DOI： 10.3109/00365518509155241

Source DB: PubMed Journal: Scand J Clin Lab Invest ISSN： 0036-5513 Impact factor: 1.713

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Cited

11 in total

1. A useful multi-analyte blood test for cerebrotendinous xanthomatosis.

Authors: Andrea E DeBarber; Jenny Luo; Roberto Giugliani; Carolina F M Souza; John Pei-Wen Chiang; Louise S Merkens; Anuradha S Pappu; Robert D Steiner
Journal: Clin Biochem Date: 2014-04-21 Impact factor: 3.281

2. Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis.

Authors: K D Setchell; F J Suchy; M B Welsh; L Zimmer-Nechemias; J Heubi; W F Balistreri
Journal: J Clin Invest Date: 1988-12 Impact factor: 14.808

3. Anomalous enantioselectivity in the sharpless asymmetric dihydroxylation reaction of 24-nor-5beta-cholest-23-ene-3alpha,7alpha,12alpha-triol: synthesis of substrates for studies of cholesterol side-chain oxidation.

Authors: N H Ertel; B Dayal; K Rao; G Salen
Journal: Lipids Date: 1999-04 Impact factor: 1.880

4. Fifty years with bile acids and steroids in health and disease.

Authors: Jan Sjövall
Journal: Lipids Date: 2004-08 Impact factor: 1.880

Review 5. Bile acids: analysis in biological fluids and tissues.

Authors: William J Griffiths; Jan Sjövall
Journal: J Lipid Res Date: 2010-01 Impact factor: 5.922

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

Authors: P T Clayton; J V Leonard; A M Lawson; K D Setchell; S Andersson; B Egestad; J Sjövall
Journal: J Clin Invest Date: 1987-04 Impact factor: 14.808

Fast atom bombardment mass spectrometry in the diagnosis of cerebrotendinous xanthomatosis.

1. A useful multi-analyte blood test for cerebrotendinous xanthomatosis.

2. Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis.

3. Anomalous enantioselectivity in the sharpless asymmetric dihydroxylation reaction of 24-nor-5beta-cholest-23-ene-3alpha,7alpha,12alpha-triol: synthesis of substrates for studies of cholesterol side-chain oxidation.

4. Fifty years with bile acids and steroids in health and disease.

Review 5. Bile acids: analysis in biological fluids and tissues.

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

Review 7. Mechanisms of disease: Inborn errors of bile acid synthesis.

8. Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy.

9. Cerebrotendinous xanthomatosis: a review of biochemical findings of the patient population in The Netherlands.

Review 10. Inborn errors of bile acid metabolism.