Gaucher disease for the hematologists
Yükleniyor...
Tarih
2022
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Galenos Publication System
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Gaucher disease (GD) is a rare hereditary lysosomal storage disease that arises due to deficiency of glucocerebrosidase. Early diagnosis is very important for starting proper treatment and preventing complications. Splenomegaly, anemia, and thrombocytopenia are the most common findings in GD and so most patients are initially referred to hematologists. The Turkish Society of Hematology established its Rare Hematological Diseases Subcommittee in 2015. One of the main topics of this subcommittee was to increase and improve awareness and education of rare diseases among hematologists in Turkey. This review presents GD with an overview of its clinical features, pathophysiology, and treatment options for hematologists.
Açıklama
Anahtar Kelimeler
Gaucher Disease, Anemia, Thrombocytopenia, Splenomegaly
Kaynak
Turkish Journal of Hematology
WoS Q Değeri
Q3
Scopus Q Değeri
Q3
Cilt
Sayı
Künye
Özdemir GN, Gündüz E. Gaucher Disease for the Hematologists. Turk J Haematol. 2022 Apr 20. doi: 10.4274/tjh.galenos.2022.2021.0683. Epub ahead of print. PMID: 35439918.