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Enzyme deficiencies deciphered

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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Figure 1: Non–reducing end structures of accumulated glycosaminoglycans as biomarkers for MPS.


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Correspondence to Lena Kjellén.

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The author declares no competing financial interests.

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Kjellén, L. Enzyme deficiencies deciphered. Nat Chem Biol 8, 137–138 (2012).

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