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Clinical application of a new simple method for the identification of mucopolysaccharidoses.

作者信息

Coppa G V, Catassi C, Gabrielli O, Giorgi P L, Dall'Amico R, Naia S, Panin G, Chiandetti L

机构信息

Department of Pediatrics, University of Ancona, Italy.

出版信息

Helv Paediatr Acta. 1987 Jun;42(5-6):419-23.

PMID:3136100
Abstract

The clinical application of a new method for the quantitative determination of urinary glycosaminoglycans (GAGs) is presented. 115 normal subjects and 44 patients affected by different types of mucopolysaccharidoses (MPSo-ses) have been studied by this method in comparison with the conventional borate-carbazole method. All patients showed an urinary GAG excretion well above the normal subjects. In particular, patients affected by Morquio syndrome showed values well beyond the normal range; on the contrary, with the borate-carbazole method, 6 out of 7 patients had borderline values of urinary GAGs. The new method is also more rapid and easier to perform than conventional methods.

摘要

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