• Geno- and phenotypic characteristic s and approaches to the complex rehabilitation of mucopolysaccharidosis in the Eastern Ukraine 
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Geno- and phenotypic characteristic s and approaches to the complex rehabilitation of mucopolysaccharidosis in the Eastern Ukraine 

INTERNATIONAL JOURNAL REHABILITATION AND PALLIATIVE MEDICINE.2015.1(1):42-47; doi 10.15574/IJRPM.2015.01.42 
 

Geno- and phenotypic characteristic s and approaches to the complex rehabilitation of mucopolysaccharidosis in the Eastern Ukraine 
 

Grechanina E. Ya., Grechanina Yu. B., Bugaeva E. V.

Kharkiv National Medical University, Ukraine

Kharkiv Specialized Medical Genetics Center, Ukraine 
 

In the article a number of clinical examples of glycosaminoglycans metabolism in children are presented. It is marked that due to the presence of organomegaly and facial dysmorphia in patients it is necessary to conduct examination for elimination of lysosomal storage diseases. Detection of clinical polymorphism of glycosaminoglycans metabolism allowed us to personalize the tactics of treatment and rehabilitation of patients, which will be obligative for all patients with mucopolysaccharidosis. 
 

Key words: mucopolysaccharidosis, glycosaminoglycans, treatment, rehabilitation. 
 

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