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

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 wel...

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Detalles Bibliográficos
Autores principales: Semyachkina, Alla Nikolaevna, Voskoboeva, Elena Yurievna, Nikolaeva, Ekaterina Alexandrovna, Zakharova, Ekaterina Yurievna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7937197/
https://www.ncbi.nlm.nih.gov/pubmed/33676511
http://dx.doi.org/10.1186/s12920-021-00922-1