Niemann-pick disease type C initially misdiagnosed as gaucher disease in a 6 year old Kazakh girl

Altynshash Jaxybayeva, Raushan Kenzhegulova, Lyazzat Baygazyieva, Francesca Cainelli, Sandro Vento

Research output: Contribution to journalLetterpeer-review

Original languageEnglish
Pages (from-to)262-264
Number of pages3
JournalIsrael Medical Association Journal
Issue number4
Publication statusPublished - Apr 1 2017


  • Beta-glucosidase
  • Gaucher disease
  • Kazakhstan
  • Niemann-Pick type C
  • Rare diseases

ASJC Scopus subject areas

  • Medicine(all)

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