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Mucopolisaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) belongs to lysosomal storage disorders (LSD). About 600 patients have been diagnosed worldwide, including 7 patients in Poland.To describe the clinical features in 4 Polish patients with Maroteaux-Lamy syndrome.Clinical manifestation of four patients with MPS VI was described. Age at the time of diagnosis was between 3–38 years.During...
Mukopolisacharydoza typu VI (MPS VI, choroba Maroteaux-Lamy’ego, zespół Maroteaux-Lamy’ego, OMIM 253200) należy do grupy lizosomalnych chorób spichrzeniowych (LChS) i jest spowodowana deficytem aktywności arylosulfatazy B (4-sulfataza N-acetylogalaktozaminy, ARSB, EC 3.1.6.12), enzymu uczestniczącego w metabolizmie glikozoaminoglikanów (GAGs). Odkładanie się glikozoaminoglikanów (głównie siarczanu...
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