Literature DB >> 5411982

A method for the quantitative determination of neutral glycosphingolipids in urine sediment.

R J Desnick, C C Sweeley, W Krivit.   

Abstract

A method is described for the isolation and quantitation of six neutral glycosyl ceramides from human urinary sediment. Total lipids were extracted from sediments of 24-hr urine collections, and the glycosyl ceramides were isolated by silicic acid column chromatography followed by thin-layer chromatography. Methanolysis of the individual glycosyl ceramides yielded methyl glycosides which were quantitated as the trimethylsilyl ethers by gas-liquid chromatography. By this technique, the submicromolar concentrations of six glycosyl ceramides in normal subjects and in individuals with Fabry's disease, an hereditary glycosphingolipid storage disease, were determined. Trihexosyl ceramide (galactosyl-galactosylglucosyl ceramide) and a digalactosyl ceramide accumulated in the urinary sediment of patients with Fabry's disease.

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Year:  1970        PMID: 5411982

Source DB:  PubMed          Journal:  J Lipid Res        ISSN: 0022-2275            Impact factor:   5.922


  13 in total

1.  Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes.

Authors:  R J Desnick; K J Dean; G Grabowski; D F Bishop; C C Sweeley
Journal:  Proc Natl Acad Sci U S A       Date:  1979-10       Impact factor: 11.205

2.  Metabolism of peripheral nerve monogalactosylceramides.

Authors:  J K Yao
Journal:  Lipids       Date:  1989-10       Impact factor: 1.880

3.  I-cell disease (mucolipidosis II):a report on its pathology.

Authors:  J J Martin; J G Leroy; J P Farriaux; G Fontaine; R J Desnick; A Cabello
Journal:  Acta Neuropathol       Date:  1975-12-30       Impact factor: 17.088

4.  Fabry's disease on the mechanism of the peripheral nerve involvement.

Authors:  N Fukuhara; M Suzuki; N Fujita; T Tsubaki
Journal:  Acta Neuropathol       Date:  1975-10-27       Impact factor: 17.088

5.  Increased glycosphingolipid excretion associated with proteinuria.

Authors:  R R Townsend; R M Orth; C M Clawson; S C Li; Y T Li
Journal:  J Clin Invest       Date:  1978-07       Impact factor: 14.808

6.  Characterization of Inositol-containing Phosphosphingolipids from Tobacco Leaves: Isolation and Identification of Two Novel, Major Lipids: N-Acetylglucosamidoglucuronidoinositol Phosphorylceramide and Glucosamidoglucuronidoinositol Phosphorylceramide.

Authors:  K Kaul; R L Lester
Journal:  Plant Physiol       Date:  1975-01       Impact factor: 8.340

Review 7.  Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.

Authors:  Monique Piraud; Magali Pettazzoni; Pamela Lavoie; Séverine Ruet; Cécile Pagan; David Cheillan; Philippe Latour; Christine Vianey-Saban; Christiane Auray-Blais; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2018-03-19       Impact factor: 4.982

8.  Myoclonic epilepsy of Lafora and arylsulphatase A deficiency in the same patient.

Authors:  B Bertagnolio; F Girotti; D Pelucchetti; M Pandolfo
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

9.  Light- and electron-microscopic histochemistry of Fabry's disease.

Authors:  T Faraggiana; J Churg; E Grishman; L Strauss; A Prado; D F Bishop; E Schuchman; R J Desnick
Journal:  Am J Pathol       Date:  1981-05       Impact factor: 4.307

10.  Efficacy of Enzyme and Substrate Reduction Therapy with a Novel Antagonist of Glucosylceramide Synthase for Fabry Disease.

Authors:  Karen M Ashe; Eva Budman; Dinesh S Bangari; Craig S Siegel; Jennifer B Nietupski; Bing Wang; Robert J Desnick; Ronald K Scheule; John P Leonard; Seng H Cheng; John Marshall
Journal:  Mol Med       Date:  2015-04-30       Impact factor: 6.354

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