Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype

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Abstract

A mildly affected Maroteaux-Lamy patient is described. Electrophoretic separation of acid mucopolysaccharides (MPS) in the urine showed an increased excretion of dermatan sulphate in spite of a normal total excretion of MPS.

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Tønnesen, T., Gregersen, H. N., & Güttler, F. (1991). Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype. Journal of Medical Genetics, 28(7), 499–501. https://doi.org/10.1136/jmg.28.7.499

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