Hurler's syndrome, an a-L-iduronidase deficiency

Reuben Matalon, Albert Dorfman

Research output: Contribution to journalArticle

74 Scopus citations

Abstract

The activity of a-L-iduronidase was found to be deficient in extracts prepared from livers, cultured fibroblasts and urine of patients with Hurler's syndrome. Extracts from livers and fibroblasts of Hunter's and Sanfilippo's syndromes did not show such a deficiency. There was a diminution of activity in extracts of "I-cell" fibroblasts. a-L-Iduronidase is believed to be the underlying enzymic defect of Hurler's disease.

Original languageEnglish (US)
Pages (from-to)959-964
Number of pages6
JournalBiochemical and Biophysical Research Communications
Volume47
Issue number4
DOIs
StatePublished - May 26 1972
Externally publishedYes

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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