Literature DB >> 8598643

First-trimester enzyme exclusion of Farber disease using a micromethod with [3H]ceramide.

V S Akhunov1, S S Gargaun, X D Krasnopolskaya.   

Abstract

Farber disease was diagnosed in a patient with typical features and ceramide accumulation in lipogranulomatous nodules. [3H]Ceramide with high specific activity was prepared and used to confirm diagnosis in the patient after her death and for prenatal studies in this family. A micromethod was developed for ceramidase assay in chorionic villi.

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Year:  1995        PMID： 8598643     DOI： 10.1007/bf02436007

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  6 in total

1.  A simple method for the isolation and purification of total lipides from animal tissues.

Authors:  J FOLCH; M LEES; G H SLOANE STANLEY
Journal:  J Biol Chem       Date:  1957-05       Impact factor: 5.157

2.  Thin-layer chromatography of neutral glycosphingolipids.

Authors:  V P Skipski
Journal:  Methods Enzymol       Date:  1975       Impact factor: 1.600

3.  Prenatal diagnosis of Farber's disease.

Authors:  A H Fensom; P F Benson; B R Neville; H W Moser; A E Moser; J T Dulaney
Journal:  Lancet       Date:  1979-11-10       Impact factor: 79.321

4.  Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts.

Authors:  J T Dulaney; A Milunsky; J B Sidbury; N Hobolth; H W Moser
Journal:  J Pediatr       Date:  1976-07       Impact factor: 4.406

5.  Ceramidase deficiency in Farber's disease (lipogranulomatosis).

Authors:  M Sugita; J T Dulaney; H W Moser
Journal:  Science       Date:  1972-12-08       Impact factor: 47.728

6.  A simple and novel method for tritium labeling of gangliosides and other sphingolipids.

Authors:  G Schwarzmann
Journal:  Biochim Biophys Acta       Date:  1978-04-28
  6 in total

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