Journal
BIOORGANIC & MEDICINAL CHEMISTRY LETTERS
Volume 20, Issue 20, Pages 5994-5996Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.bmcl.2010.08.080
Keywords
Lysosomal storage disease; Newborn screening; Tandem mass spectrometry; Enzyme assay; Clinical chemistry
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Funding
- Biomarin Pharmaceutical Inc. Novato CA
- NIH [R01DK067859]
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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. (c) 2010 Elsevier Ltd. All rights reserved.
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