Prediction of sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients

Molecular Genetics and Metabolism

Volumn 73, Issue 4, 2001, Pages 306-312

  Perkins, Kelly J ^a   Muller, Vivienne ^a   Weber, Birgit ^a   Hopwood, John J ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

Clinical severity; Mucopolysaccharidosis type IIIA; Sanfilippo phenotype; Sulfamidase protein quantification

Indexed keywords

HEPARAN N SULFAMIDASE; HEPARAN SULFATE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL CULTURE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME REPLACEMENT; GENE THERAPY; GENOTYPE; HUMAN; HUMAN CELL; LYSOSOME STORAGE DISEASE; MUCOPOLYSACCHARIDOSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CONTENT; PROTEIN DETERMINATION; SANFILIPPO SYNDROME; SKIN FIBROBLAST;

EID: 0034854439     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3190     Document Type: Article

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