Literature DB >> 5673446

Gaucher's disease: a genetic disease detected in skin fibroblast cultures.

B S Danes, A G Bearn.   

Abstract

Skin fibroblasts from three adult patients with chronic noncerebral Gaucher's disease, three children of one of the patients, three parents, and six normal individuals were grown in cell culture. Giant fibroblasts containing metachromatic material were seen in all cultures derived from affected individuals and heterozygous carriers but not in those derived from normal individuals.

Entities:  

Mesh：

Year:  1968        PMID： 5673446     DOI： 10.1126/science.161.3848.1347

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


  6 in total

Review 1.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

2.  The mucopolysaccharidoses.

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

3.  The genetic secrets of the humble fibroblast.

Authors:  A G Bearn; B S Danes
Journal:  Trans Am Clin Climatol Assoc       Date:  1970

4.  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

Review 5.  Neuronopathic Gaucher disease: Beyond lysosomal dysfunction.

Authors:  Nohela B Arévalo; Cristian M Lamaizon; Viviana A Cavieres; Patricia V Burgos; Alejandra R Álvarez; María J Yañez; Silvana Zanlungo
Journal:  Front Mol Neurosci       Date:  2022-08-03       Impact factor: 6.261

6.  Cystic fibrosis of the pancreas. A study in cell culture.

Authors:  B S Danes; A G Bearn
Journal:  J Exp Med       Date:  1969-04-01       Impact factor: 14.307
  6 in total

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