Journal article

Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots

LK Hein, PJ Meikle, CJ Dean, MR Bockmann, D Auclair, JJ Hopwood, DA Brooks

Clinica Chimica Acta | ELSEVIER SCIENCE BV | Published : 2005


BACKGROUND: Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder (LSD), which is caused by a deficiency in the enzyme N-acetylgalactosamine 4-sulfatase (4-sulfatase). MPS VI is characterized by severe skeletal abnormalities, somatic tissue pathology and early death. Treatment possibilities include bone marrow transplantation (BMT) and enzyme replacement therapy (ERT; currently in phase III clinical trial). Early diagnosis of MPS VI will allow treatment before the onset of irreversible pathology. METHODS: Sensitive immune assays have been developed to detect 4-sulfatase protein and activity in normal control and MPS VI blood-spots. RESULTS: Dried blood-spots from MPS VI pati..

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University of Melbourne Researchers