[First cases of Pompe's disease in Kazakhstan]

Zh Nevrol Psikhiatr Im S S Korsakova. 2017;117(8):85-87. doi: 10.17116/jnevro20171178185-87.
[Article in Russian]

Abstract
in English, Russian

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

В статье приведены два клинических наблюдения с впервые выявленной болезнью Помпе у пациенток в Республике Казахстан, подтвержденные генетическим исследованием.

Keywords: Pompe disease; genotype; lysosomes; myopathy; phenotype.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Glycogen Storage Disease Type II / diagnosis*
  • Glycogen Storage Disease Type II / genetics*
  • Glycogen Storage Disease Type II / physiopathology
  • Humans
  • Kazakhstan
  • Muscle Tonus
  • Muscle, Skeletal / physiopathology
  • Pedigree
  • Rare Diseases / diagnosis*
  • Rare Diseases / genetics*
  • Rare Diseases / physiopathology