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

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1407, Issue 3, 1998, Pages 249-256

  Bunge, Susanna ^a,b   Clements, Peter R ^b   Byers, Sharon ^b   Kleijer, Wim J ^c   Brooks, Dough A ^b   Hopwood, John J ^b  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b Lysosomal Diseases Research Unit   (Australia)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Enzyme kinetics; Genotype phenotype correlation; Immunoquantification; Mucopolysaccharidosis type I

Indexed keywords

LEVO IDURONIDASE;

ARTICLE; CELL LINE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME KINETICS; FIBROBLAST; GENOTYPE; HUMAN; HUMAN CELL; IN VITRO STUDY; MISSENSE MUTATION; MUCOPOLYSACCHARIDOSIS; PHENOTYPE; PRIORITY JOURNAL;

FELIS CATUS;

EID: 0032413781     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(98)00046-5     Document Type: Article

References (19)

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