Skeletal manifestations for mucopolysaccharidoses of different types

Бучинская Н.В., Костик М.М., Чикова И.А., Исупова Е.А., Калашникова О.В., Часнык В.Г., Губин А.В., Рябых С.О., Очирова П.В.

Abstract


The review deals with the analysis of the publications related to the evaluation of mucopolysaccharidosis clinical manifestations. The pathological conditions and syndromes characterizing the changes in different organs and systems for glycosaminoglycan degradation disorder described, as well as mucopolysaccharidosis types, the plan of the patients’ examination, the diagnostics and the details of treatment.

Keywords


mucopolysaccharisosis, the Hurler syndrome, the Hurler-Scheie syndrome, the Sheie syndrome, the Hunter disease, the Sanfilippo syndrome, the Morquio syndrome, the Maroteaux-Lamy syndrome, gyaluronidase deficit

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