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PMID: 5581981 Published · ppublish English Journal Article

Ganglioside GM2 storage diseases: hexosaminidase deficiencies in cultured fibroblasts.

American journal of human genetics ·Vol. 23 ·No. 1 ·1971-01-00 ·Pages 55-61

Okada S, Veath ML, Leroy J, O'Brien JS

Abstract

暂无摘要

MeSH Terms
Adult Child Culture Techniques Electrophoresis Female Fibroblasts/enzymology Gangliosides/metabolism Glycoside Hydrolases/analysis Hexosamines Humans Infant, Newborn Lipid Metabolism, Inborn Errors/diagnosis,enzymology Lipidoses/enzymology Male
Chemicals
Gangliosides Hexosamines Glycoside Hydrolases
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Okada S
Veath M L
Leroy J
O'Brien J S
References (6)
6 references, click to expand
  1. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts.
    Science. 1967 Aug 18;157(3790):804-6 PMID: 17842782
  2. Five gangliosidoses.
    Lancet. 1969 Oct 11;2(7624):805 PMID: 4186052
  3. Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease.
    FEBS Lett. 1969 Aug;4(4):351-354 PMID: 11947222
  4. Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.
    N Engl J Med. 1970 Jul 2;283(1):15-20 PMID: 4986776
  5. Protein measurement with the Folin phenol reagent.
    J Biol Chem. 1951 Nov;193(1):265-75 PMID: 14907713
  6. Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component.
    Science. 1969 Aug 15;165(3894):698-700 PMID: 5793973
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1971-01-00
Pages
55-61
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1706637
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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