Quantitation of the enzymically deficient cross reacting material in G(M1) gangliosidoses

Y. Ben-Yoseph, Barbara K Burton, H. L. Nadler

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

Normal quantities of G(M 1) β-galactosidase cross reacting material (CRM) (0.31-0.47 μg/mg protein) were detected by a sensitive radial immunodiffusion assay in skin fibroblast from patients with G(M 1) gangliosidosis type 1 and adult variants, whereas elevated levels were found in G(M 1) gangliosidosis type 2 (0.41-0.72 μg/mg protein). The specific activity of the immunologically CRM towards G(M 1) ganglioside of normal fibroblasts was about 500 times that of type 1, 100 times that of type 2, and 30 times that of the adult variants.

Original languageEnglish (US)
Pages (from-to)575-580
Number of pages6
JournalAmerican Journal of Human Genetics
Volume29
Issue number6
StatePublished - Dec 1 1977

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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