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

doi:10.1016/s0925-4439(98)00046-5

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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-iduronidas...

Topics

Cell Line
Fibroblasts
Genotype
Glycosaminoglycans
Humans
Iduronidase
Kinetics
Mucopolysaccharidosis I
Mutation
Phenotype

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