Literature DB >> 4239585

Glycolipid and mucopolysaccharide abnormality in fibroblasts of fabry's disease.

R Matalon, A Dorfman, G Dawson, C C Sweeley.   

Abstract

Cultures of skin fiibroblasts from a patient with Fabry's disease showed an accumulation of the glycolipid, galactosyl-galactosyl-glucosyl ceramide. Such cells also showed metachromasia on staining with toluidine blue and a markedly elevated acid mucopolysaccharide content.

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Year:  1969        PMID： 4239585     DOI： 10.1126/science.164.3887.1522

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  8 in total

1.  Cell line GM-4390 deficient in lysosomal alpha-galactosidase activity.

Authors:  C R Kaneski; K L Oliver; J M Quirk
Journal:  In Vitro Cell Dev Biol       Date:  1991-04

2.  The mucopolysaccharidoses.

Authors:  C A Pennock; I C Barnes
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

3.  Fabry's disease: specific inclusions found on electron microscopy of fibroblast cultures.

Authors:  J McLean; G Stewart
Journal:  J Med Genet       Date:  1974-06       Impact factor: 6.318

4.  Fibroblast culture and inherited neurological diseases.

Authors:  G Stewart
Journal:  Proc R Soc Med       Date:  1971-02

Review 5.  Progress in birth defects research.

Authors:  M R Bernfield
Journal:  Calif Med       Date:  1970-02

6.  Fabry's disease: absence of an -galactosidase isozyme.

Authors:  S Wood; H L Nadler
Journal:  Am J Hum Genet       Date:  1972-05       Impact factor: 11.025

7.  [Analytical study of Fabry's disease (author's transl)].

Authors:  J Roth; E Schulze; G Raabe; G Waldmann
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1974

8.  Simulation of genetic mucopolysaccharidoses in normal human fibroblasts by alteration of pH of the medium.

Authors:  S O Lie; V A McKusick; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1972-09       Impact factor: 11.205
  8 in total

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