First cases of Pompe’s disease in Kazakhstan

N. A. Zharkinbekova; G. A. Mukhambetova; G. S. Kaishibayeva; B. S. Zhiyenbayeva; K. B. Zhumagulova; S. N. Kaishibayev; A. E. Iglikova; S. Y. Suleimanova

Journal ArticleOPEN ACCESS

First cases of Pompe’s disease in Kazakhstan

Zharkinbekova N
Mukhambetova G
Kaishibayeva G
et al.

Zhurnal Nevrologii i Psihiatrii imeni S.S. Korsakova (2017) 117(8) 85-87

DOI: 10.17116/jnevro20171178185-87

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Abstract

The article presents the clinical observations of two newly diagnosed patients with Pompe disease in the Republic of Kazakhstan, confirmed by genetic research.

Author supplied keywords

Genotype
Lysosomes
Myopathy
Phenotype
Pompe disease

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CITATION STYLE

APA

Zharkinbekova, N. A., Mukhambetova, G. A., Kaishibayeva, G. S., Zhiyenbayeva, B. S., Zhumagulova, K. B., Kaishibayev, S. N., … Suleimanova, S. Y. (2017). First cases of Pompe’s disease in Kazakhstan. Zhurnal Nevrologii i Psihiatrii Imeni S.S. Korsakova, 117(8), 85–87. https://doi.org/10.17116/jnevro20171178185-87

First cases of Pompe’s disease in Kazakhstan

Abstract

Author supplied keywords

Cite

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