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Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes.
Bioorganic & Medicinal Chemistry Letters 2010 October 16
In continued efforts to develop enzymatic assays for lysosomal storage diseases appropriate for newborn screening laboratories we have synthesized novel and specific enzyme substrates for Maroteaux-Lamy (MPS VI) and Morquio A (MPS IVA) diseases. The sulfated monosaccharide derivatives were found to be converted to product by the respective enzyme in blood from healthy patients but not by blood from patients with the relevant lysosomal storage disease. The latter result shows that the designed substrates are highly selective for the respective enzymes.
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