Gaucher Disease and Cancer: Concept and Controversy

Report of Four Children with Gaucher Disease and Review of Literature

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...

A Case of Gaucher\'s Disease with Recurrent Fetal Loss and Antiphospholipid Antibody Syndrome

P-111: An Attempt to Facilitate the Production of Transgenic Mouse As A Model for Gene Therapy of Gaucher Disease

Background: Gaucher disease is an autosomal recessive inherited lysosomal storage disorder that affects many of the body's organs and tissues by defective function of the catabolic enzyme β-glucocerebrosidase. Gene therapy is one of the efficient ways for treatment of this disease. Due to the lack of appropriate animal models, in the field of gene therapy little progress has been done.Mate...

Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher patients

Gaucher's disease (GD) is the most frequent lysosomal storage disorder resulting from a deficiency of the enzyme glucocerebrosidase (GBA) which causes the accumulation of glucocerebroside. More than 500 mutations have been reported on the GBA gene so far. In this study, we aimed to investigate more on the genotype of less known mutations through haplotype analysis to explain their disease-causi...

Preface: Gaucher disease and cancer.

In this special issue the relationship of Gaucher disease to malignancy is explored in depth. For many years, multiple reports have attempted to substantiate this relationship, but until recently, the reported studies have not been convincing. Rosenbloom and Weinreb present an up-to-date review on Gaucher disease so the reader will understand the clinical, pathophysiological, and molecular aspe...