Niemann-Pick disease type C initially misdiagnosed as gaucher disease in a 6 year old kazakh girl

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Date

2017

Authors

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

Journal Title

Journal ISSN

Volume Title

Publisher

IMAJ

Abstract

Description

Keywords

Niemann-Pick type C, Gaucher disease, beta-glucosidase, rare diseases, Kazakhstan

Citation

Jaxybayeva, Altynshash, Kenzhegulova, Raushan, Baygazyieva, Lyazzat, Cainelli, Francesca . (2017) Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl. IMAJ. pages 262–264

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