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Article

Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.

Biochimica et biophysica acta - 30 Sept 1998

Bunge S, Clements P R, Byers S, Kleijer W J, Brooks D A, Hopwood J J

Abstract excerpt

Fibroblasts from 16 patients with known alpha-L-iduronidase gene mutations and different clinical phenotypes of mucopolysaccharidosis type I (MPS I) were investigated in order to establish genotype/phenotype correlations. Enzyme kinetic studies were performed using the specific alpha-L-iduronidase substrate iduronosyl anhydro[1-3H]mannitol-6-sulfate. Specific residual enzyme activities were estimated using the...

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Identifiers

PMID: 9748610
DOI: 10.1016/s0925-4439(98)00046-5

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