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

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

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

Affiliation

Bunge S; Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany. bunge@plexus.uke.uni-hamburg.de

Biochim Biophys Acta ; 1407(3): 249-56, 1998 Sep 30.

Article in En | MEDLINE | ID: mdl-9748610

Subject(s)

Iduronidase/genetics; Mucopolysaccharidosis I/genetics; Mutation; Cell Line; Fibroblasts/enzymology; Genotype; Glycosaminoglycans/metabolism; Humans; Iduronidase/analysis; Kinetics; Mucopolysaccharidosis I/enzymology; Phenotype

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Collection: 01-internacional Database: MEDLINE Main subject: Mucopolysaccharidosis I / Iduronidase / Mutation Limits: Humans Language: En Journal: Biochim Biophys Acta Year: 1998 Document type: Article

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