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Article

Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).

BMC medical genomics - 6 Mar 2021

Semyachkina Alla Nikolaevna, Voskoboeva Elena Yurievna, Nikolaeva Ekaterina Alexandrovna, Zakharova Ekaterina Yurievna

Abstract excerpt

BACKGROUND: This article presents the results of long-term observations and comparative analysis of genotype-phenotype features in a large group of patients (227 males and one female) with a severe, intermediate and mild form of Hunter syndrome, evaluating the quality and span of their lives, as well as their ability to social adaptation. METHODS: We used electrophoresis of glycosaminoglycans of urine,...

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Identifiers

PMID: 33676511
DOI: 10.1186/s12920-021-00922-1
PMCID: PMC7937197

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