Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders characterized by a deficiency in one of the lysosomal enzymes required to degrade glycosaminoglycans (GAGs) [1]. In all MPS subtypes, partially degraded GAG(s) accumulate in the lysosomes of affected cells and/or are eliminated in the blood and excreted in the urine. Therapeutic approach towards MPS patients has offered various treatment options represented by enzyme replacement therapy [2], hematopoietic stem cell transplantation [3] and experimental gene therapies [4]. However, for treatment to be successful, patients need to be treated earlier in the course of their disease and early identification of the clinically asymptomatic subjects requires screening by means of specific and sensitive tests. In this study, we present a rapid agarose-gel electrophoresis analysis for the quali-quantitative evaluation of high-molecular mass urinary GAGs with a view to a possible application in the early diagnosis of MPS.

Agarose-gel electrophoresis for the diagnosis of mucopolysaccharidoses. Clin Chem Lab Med / Coppa, G; Buzzega, Dania; Zampini, L; Maccari, Francesca; Galeazzi, T; Padella, L; Santoro, L; Gabrielli, O; Volpi, Nicola. - In: CLINICAL CHEMISTRY AND LABORATORY MEDICINE. - ISSN 1434-6621. - STAMPA. - 50:3(2012), pp. 589-592. [10.1515/CCLM.2011.798]

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