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 journalLetter

Original languageEnglish
Pages (from-to)262-264
Number of pages3
JournalIsrael Medical Association Journal
Volume19
Issue number4
Publication statusPublished - Apr 1 2017

Fingerprint

Type C Niemann-Pick Disease
Kazakhstan
Gaucher Disease
beta-Glucosidase
Rare Diseases
Diagnostic Errors

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Niemann-pick disease type C initially misdiagnosed as gaucher disease in a 6 year old Kazakh girl. / Jaxybayeva, Altynshash; Kenzhegulova, Raushan; Baygazyieva, Lyazzat; Cainelli, Francesca; Vento, Sandro.

In: Israel Medical Association Journal, Vol. 19, No. 4, 01.04.2017, p. 262-264.

Research output: Contribution to journalLetter

Jaxybayeva, Altynshash ; Kenzhegulova, Raushan ; Baygazyieva, Lyazzat ; Cainelli, Francesca ; Vento, Sandro. / Niemann-pick disease type C initially misdiagnosed as gaucher disease in a 6 year old Kazakh girl. In: Israel Medical Association Journal. 2017 ; Vol. 19, No. 4. pp. 262-264.
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