Mucopolysaccharidoses are inherited disorders in which inactivation of lysosomal enzymes results in accumulation of glycosaminoglycans within cells, causing tissue and organ dysfunction. A method to determine the unique end structures of the accumulated glycosaminoglycans offers a new way for diagnosis.
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Kjellén, L. Enzyme deficiencies deciphered. Nat Chem Biol 8, 137–138 (2012). https://doi.org/10.1038/nchembio.778
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DOI: https://doi.org/10.1038/nchembio.778
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