Scheie and Hurler Syndromes: Apparent Identity of the Biochemical Defect

Overview

Journal Science

Specialty Science

Date 1970 Jul 3

PMID 4246082

Citations 14

Authors

U Wiesmann

E F Neufeld

Affiliations

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Abstract

Fibroblasts cultured from the skin of Scheie and Hurler patients are deficient in the same specific factor required for normal mucopolysaccharide metabolism.

Citing Articles

Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

Scott H, Litjens T, Nelson P, Thompson P, Brooks D, Hopwood J Am J Hum Genet. 1993; 53(5):973-86.

PMID: 8213840 PMC: 1682315.

Hybridization studies of fibroblasts from Hurler, Scheie, and Hurler/Scheie compound patients: support for the hypothesis of allelic mutants.

Fortuin J, Kleijer W Hum Genet. 1980; 53(2):155-9.

PMID: 6766899 DOI: 10.1007/BF00273487.

The pathology of the feline model of mucopolysaccharidosis I.

Haskins M, Aguirre G, Jezyk P, Desnick R, Patterson D Am J Pathol. 1983; 112(1):27-36.

PMID: 6407329 PMC: 1916323.

Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndromes by plasma infusion.

DI FERRANTE N, Nichols B, Donnelly P, Neri G, Hrgovcic R, Berglund R Proc Natl Acad Sci U S A. 1971; 68(2):303-7.

PMID: 5277074 PMC: 388923. DOI: 10.1073/pnas.68.2.303.

Our twenty-fifth.

Neel J Am J Hum Genet. 1974; 26(2):136-44.

PMID: 4595827 PMC: 1762672.