@article{2b6788105d5b4d548be8433713293a60,
title = "Niemann-pick disease type C initially misdiagnosed as gaucher disease in a 6 year old Kazakh girl",
keywords = "Beta-glucosidase, Gaucher disease, Kazakhstan, Niemann-Pick type C, Rare diseases",
author = "Altynshash Jaxybayeva and Raushan Kenzhegulova and Lyazzat Baygazyieva and Francesca Cainelli and Sandro Vento",
year = "2017",
month = apr,
day = "1",
language = "English",
volume = "19",
pages = "262--264",
journal = "Israel Medical Association Journal",
issn = "1565-1088",
publisher = "Israel Medical Association",
number = "4",
}