Article
Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.
Metabolic brain disease - 1 Aug 2018
Bulut Fatma Derya, Kör Deniz, Şeker-Yılmaz Berna, Hergüner Özlem, Ceylaner Serdar, Özkınay Ferda, Kılavuz Sebile, Önenli-Mungan Neslihan
Abstract excerpt
Gaucher disease is the most common lysosomal storage disorder due to glucosylceramidase enzyme deficiency. There are three subtypes of the disease. Neurological involvement accompanies visceral and haematological findings only in type II and type III Gaucher patients. Type II is the acute progressive neuronopathic form which is the most severe and rare subtype. Clinical findings are recognized prenatally or in...
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