MUCOPOLYSACCHARIDES RARE GENETIC DISEASE IN PEDLATRIC PRACTICE.
DOI:
https://doi.org/10.11603/24116-4944.2014.2.4837Keywords:
мucopolysaccharidoses, children, prenatal diagnosis.Abstract
Mucopolysaccharidoses - a group of metabolic diseases of the connective tissue associated with metabolic disorders of acid glycosaminoglycans (GAG, mucopolysaccharides) caused by deficiency of lysosomal enzymes exchange glycosaminoglycans. Prevention mucopolysaccharidoses - prenatal diagnosis based on direct determination of enzyme deficiency in amniotic cells.References
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