doi: 10.1126/science.161.3848.1347.
Gaucher's disease: a genetic disease detected in skin fibroblast cultures
- PMID: 5673446
- DOI: 10.1126/science.161.3848.1347
Item in Clipboard
Gaucher's disease: a genetic disease detected in skin fibroblast cultures
Science.
.
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.
Similar articles
-
Detection of Gaucher's disease and its carrier state from fibroblast cultures.Lancet. 1970 Aug 15;2(7668):369. doi: 10.1016/s0140-6736(70)92907-7. Lancet. 1970. PMID: 4194474 No abstract available.
-
Leukocyte beta-glucosidase in a child with Gaucher's disease and his kinship.Acta Paediatr Hung. 1984;25(3):237-40. Acta Paediatr Hung. 1984. PMID: 6437419
-
Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.Am J Hum Genet. 1971 Jan;23(1):62-6. Am J Hum Genet. 1971. PMID: 5581982 Free PMC article. No abstract available.
-
Population study of chronic Gaucher's disease.Isr J Med Sci. 1973 Sep-Oct;9(9):1396-8. Isr J Med Sci. 1973. PMID: 4775122 No abstract available.
-
Gaucher's disease: genetic counselling and population screening.Baillieres Clin Haematol. 1997 Dec;10(4):779-92. doi: 10.1016/s0950-3536(97)80040-6. Baillieres Clin Haematol. 1997. PMID: 9497864 Review.
Cited by
-
Neuronopathic Gaucher disease: Beyond lysosomal dysfunction.Front Mol Neurosci. 2022 Aug 3;15:934820. doi: 10.3389/fnmol.2022.934820. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35992201 Free PMC article. Review.
-
Simulation of genetic mucopolysaccharidoses in normal human fibroblasts by alteration of pH of the medium.Proc Natl Acad Sci U S A. 1972 Sep;69(9):2361-3. doi: 10.1073/pnas.69.9.2361. Proc Natl Acad Sci U S A. 1972. PMID: 4262638 Free PMC article.
-
The genetic secrets of the humble fibroblast.Trans Am Clin Climatol Assoc. 1970;81:30-3. Trans Am Clin Climatol Assoc. 1970. PMID: 4256038 Free PMC article. No abstract available.
-
Cystic fibrosis of the pancreas. A study in cell culture.J Exp Med. 1969 Apr 1;129(4):775-93. doi: 10.1084/jem.129.4.775. J Exp Med. 1969. PMID: 4237349 Free PMC article.
-
The mucopolysaccharidoses.J Med Genet. 1976 Jun;13(3):169-81. doi: 10.1136/jmg.13.3.169. J Med Genet. 1976. PMID: 132532 Free PMC article. No abstract available.
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
