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The aim of this study was to determine the prevalence rates of mucopolysaccharidoses in Poland and to compare them with other European countries. A retrospective epidemiological survey covering the period between 1970 and 2010 was implemented. Multiple ascertainment sources were used to identify affected patients. The overall prevalence of mucopolysaccharidoses in the Polish population was 1.81 per...
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...
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