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• W2023172165 abstract "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. Sensitive immune assays have been developed to detect 4-sulfatase protein and activity in normal control and MPS VI blood-spots. Dried blood-spots from MPS VI patients contained no detectable 4-sulfatase protein and activity, compared to 3.5–21 μg/L of 4-sulfatase protein and 291–1298 nmol/min/L of activity for normal human controls. In this evaluation study, the assay was sensitive and 100% specific, allowing reliable detection of individuals with MPS VI. The assays reported here have the potential to detect MPS VI patients using dried blood-spots." @default.
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• W2023172165 date "2005-03-01" @default.
• W2023172165 modified "2023-10-15" @default.
• W2023172165 title "Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots" @default.
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• W2023172165 doi "https://doi.org/10.1016/j.cccn.2004.10.009" @default.
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