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Zharkinbekova N.A.

Oblastnaia klinicheskaia bol'nitsa, Shymkent

Mukhambetova G.A.

Scientific-Practical Center Smagul Kaishibayev Institute of Neurology, Almaty, Kazakhstan

Kaishibayeva G.S.

Scientific-Practical Center Smagul Kaishibayev Institute of Neurology, Almaty, Kazakhstan

Zhiyenbayeva B.S.

Scientific-Practical Center Smagul Kaishibayev Institute of Neurology, Almaty, Kazakhstan

Zhumagulova K.B.

Scientific-Practical Center Smagul Kaishibayev Institute of Neurology, Almaty, Kazakhstan

Kaishibayev S.N.

Scientific-Practical Center Smagul Kaishibayev Institute of Neurology, Almaty, Kazakhstan

Iglikova A.E.

Scientific-Practical Center Smagul Kaishibayev Institute of Neurology, Almaty, Kazakhstan

Suleĭmanova S.Iu.

Kafedra nevrologii, psikhiatrii i narkologii Zapadno-Kazakhstanskogo gosudarstvennogo meditsinskogo universiteta im. M. Ospanova, Kazakhstan

First cases of Pompe’s disease in Kazakhstan

Authors:

Zharkinbekova N.A., Mukhambetova G.A., Kaishibayeva G.S., Zhiyenbayeva B.S., Zhumagulova K.B., Kaishibayev S.N., Iglikova A.E., Suleĭmanova S.Iu.

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2017;117(8): 85‑87

DOI: 10.17116/jnevro20171178185-87

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To cite this article:

Zharkinbekova NA, Mukhambetova GA, Kaishibayeva GS, et al. . First cases of Pompe’s disease in Kazakhstan. S.S. Korsakov Journal of Neurology and Psychiatry. 2017;117(8):85‑87. (In Russ.)
https://doi.org/10.17116/jnevro20171178185-87

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

Keywords:

Pompe disease
genotype
phenotype
lysosomes
myopathy

Authors:

Zharkinbekova N.A.

Oblastnaia klinicheskaia bol'nitsa, Shymkent

Mukhambetova G.A.

Scientific-Practical Center Smagul Kaishibayev Institute of Neurology, Almaty, Kazakhstan

Kaishibayeva G.S.

Scientific-Practical Center Smagul Kaishibayev Institute of Neurology, Almaty, Kazakhstan

Zhiyenbayeva B.S.

Scientific-Practical Center Smagul Kaishibayev Institute of Neurology, Almaty, Kazakhstan

Zhumagulova K.B.

Scientific-Practical Center Smagul Kaishibayev Institute of Neurology, Almaty, Kazakhstan

Kaishibayev S.N.

Scientific-Practical Center Smagul Kaishibayev Institute of Neurology, Almaty, Kazakhstan

Iglikova A.E.

Scientific-Practical Center Smagul Kaishibayev Institute of Neurology, Almaty, Kazakhstan

Suleĭmanova S.Iu.

Kafedra nevrologii, psikhiatrii i narkologii Zapadno-Kazakhstanskogo gosudarstvennogo meditsinskogo universiteta im. M. Ospanova, Kazakhstan

List of references:

  1. Wen-Lin Kuo, Hirschhorn R, Huie ML, Hirschhorn K. Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization. Human Genetics.1996;97:3:404-406. https://doi.org/10.1007/BF02185782
  2. Ausems MG, Verbiest J, Hermans MP, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counseling. Eur J Hum Genet. 1999;7:6:713-716. https://doi.org/10.1038/sj.ejhg.5200367
  3. van der Ploeg AT, Laforêt P. Pompe Disease. https://doi.org/10.1093/med/9780199972135.003.0055
  4. Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. (eds.). Molecular and metabolic bases of inherited disease, 8th edition. Human Genetics. 2001;110:2:205-206. https://doi.org/10.1007/s00439-001-0669-z
  5. Hesselink RP, Wagenmakers AJ, Drost MR, Van der Vusse GJ. Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II. Biochimica et Biophysica Acta (BBA) — Molecular Basis of Disease. 1637:2:164-170. https://doi.org/10.1016/s0925-4439(02)00229-6
  6. Winkel LP, Hagemans ML, van Doorn PA, et al. The natural course of non-classic Pompe’s disease; a review of 225 published cases. Journal of Neurology. 2005;252:8:875-884. https://doi.org/10.1007/s00415-005-0922-9
  7. van der Beek NAME, de Fries JM, Hagemans MLC, et al. Clinucal features and predictors for disease natural progression in adult with Pompe disease: a nationwide prospective observational study. Orphanet Jornal of Rare diseases. 2012;7:1:88. https://doi.org/10.1186/1750-1172-7-88
  8. Brignol T, Urtizberea J. Болезнь Помпе и офтальмопатия: обзор литературы. Нервно-мышечные болезни. 2015;5(1):19-24. https://doi.org/10.17650/2222-8721-2015-1-19-24
  9. Kurbatov SA, Nikitin SS, Zakharova EY. Late-onset Pompe disease with phenotype of the limb-girdle muscular dystrophy. Neuromuscular Diseases. 2015;5(3):62-68. (In Russ.). https://doi.org/10.17650/2222-8721-2015-5-3-62-68

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