how to cite this article: salehpour sh. diagnostic methods for gaucher disease. iran j child neurol. 2015 autumn;9:4(suppl.1): 14-15. pls see pdf.

gaucher disease (gd) is the most common type of lysosomal storage disorder and it is divided into three distinct subtypes. the authors here report four different cases of gaucher disease, with varying clinical manifestations, and the diagnosis of each established by the low level of beta-glucosidase enzyme as well as genetic dna testing. the study also highlights the importance of early diagnos...

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Gaucher Disease (GD) is the most common type of Lysosomal Storage Disorder and it is divided into three distinct subtypes. The authors here report four different cases of Gaucher Disease, with varying clinical manifestations, and the diagnosis of each established by the low level of Beta-Glucosidase enzyme as well as genetic DNA testing. The study also highlights the importance of early diagnos...

background gaucher’s disease (g.d.) is an autosomal recessive disorder resulting from the accumulation of glucocerebrosidase in the cells of macrophage-monocyte system as a result of a deficiency in lysosomal glucocerebrosidase. this enzyme is encoded by a gene on chromosome-1. here we report a case of gaucher’s disease .g.d is rare in yazd. case reports we reported a patient that presented wit...

how to cite this article: taghdiri mm. type 2 gaucher disease (acute infantile gaucher disease or neuropathic type). iran j child neurol autumn 2012; 6:4 (suppl. 1):12.   pls see pdf.

how to cite this article: salehpour sh. clinical manifestations of type 1 gaucher disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):13-14. pls see pdf. refe r ences 1. beutler e, grabowski ga. gaucher disease. in: metabolic and molecular bases of inherited disease, scriver cr, beaudet al, sly ws, valle d (eds), mcgraw-hill, new york 2001: 3635. 2. cox tm, schofield jp.   gaucher’s diseas...

Touch MEDical MEDia 15 Abstract Gaucher disease, which is caused by an inherited glucocerebrosidase deficiency, is the most prevalent lysosomal storage disease worldwide. Estimated prevalence of Gaucher disease is 1:50,000 in most countries and the disease has its highest incidence in the Ashkenazi Jewish population. Type 1 (non-neuropathic) Gaucher disease is by far the most common form. Gauch...

background: gaucher disease is a lysosomal storage disorder due to deficiency of glucocerebrosidase enzyme. in this study, a case of enzyme-treated woman during her pregnancy was reported. case presentation: a 27-year old woman with type i gaucher disease was managed for pregnancy until delivery. she underwent elective splenectomy at age 26 years and was treated with 19-38 units/kg of imiglucer...