Atypical hurler syndrome without .ALPHA.-L-iduronidase deficiency.
- 1 January 1976
- journal article
- research article
- Published by Tohoku University Medical Press in The Tohoku Journal of Experimental Medicine
- Vol. 120 (2) , 113-123
- https://doi.org/10.1620/tjem.120.113
Abstract
Three atypical patients with clinical and laboratory findings of Hurler syndrome, but without .alpha.-L-iduronidase deficiency, are described. Clinical features included characteristic facies, mental retardation, corneal clouding, dysostosis multiplex, restriction of joint mobility and hepatosplenomegaly. Excessive amounts of chondroitin sulfate B and heparitin sulfate were excreted in the urine. .alpha.-L-Iduronidase aactivities in leukocytes and liver tissues were within the normal range or somewhat elevated.This publication has 1 reference indexed in Scilit:
- PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENTJournal of Biological Chemistry, 1951