Copyright © 2011 J. J. Sheth et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. A 15-month-old girl, born to the consanguineous parents, was referred with the sign of massive splenomegaly associated with thrombocytopenia and anemia. Plasma Chitotriosidase estimation was carried out as a screening test and was found to be normal with reduced activity of β-glucosidase in leucocytes suggestive of Gaucher disease. At the age of 4 years, severe osteoporosis and cardiomegaly with pulmonary congestion were observed in the child. Molecular analysis for GBA gene has revealed homozy...
.jpg%3Fwidth%3D300&w=3840&q=75)
Aim: Gaucher disease is a rare lysosomal storage disease. Enzyme replacement therapy has proven to b...
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a de...
Gaucher disease (GD) is a rare autosomal recessive metabolic disorder. It is characterized by a defi...
Background Gaucher’s Disease (G.D.) is an autosomal recessive disorder resulting from the accumulati...
Background: Gaucher disease is a sphingolipidosis, an inherited disorder of metabolism resulting fro...
Introduction:Gaucher\'s disease is an inherited, autosomal recessive storage disease of glucocerebro...
Gaucher's disease is a rare lipid storage disorder, affecting one in 40,000-200,000 people and resul...
Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it...
Gaucher disease is a rare autosomal recessive genetic disorder. It is caused by the deficiency of ly...
Objectives: Thrombocytopenia and splenomegaly are common features in several haematological disorder...
Background: Gaucher disease (GD) is an autosomal recessive lysosomal storage disease. The disease de...
CONTEXT: Described originally in 1882, Gaucher's disease is the most prevalent of storage disorders....
Gaucher disease is the most common lysosomal storage disease. It is caused by the defective activity...
Gaucher disease is the most common lysosomal storage disease. It is caused by the defective activity...
Introduction: Gaucher’s disease is a hereditary disease that can be diagnosed by determination of ac...
Aim: Gaucher disease is a rare lysosomal storage disease. Enzyme replacement therapy has proven to b...
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a de...
Gaucher disease (GD) is a rare autosomal recessive metabolic disorder. It is characterized by a defi...
Background Gaucher’s Disease (G.D.) is an autosomal recessive disorder resulting from the accumulati...
Background: Gaucher disease is a sphingolipidosis, an inherited disorder of metabolism resulting fro...
Introduction:Gaucher\'s disease is an inherited, autosomal recessive storage disease of glucocerebro...
Gaucher's disease is a rare lipid storage disorder, affecting one in 40,000-200,000 people and resul...
Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it...
Gaucher disease is a rare autosomal recessive genetic disorder. It is caused by the deficiency of ly...
Objectives: Thrombocytopenia and splenomegaly are common features in several haematological disorder...
Background: Gaucher disease (GD) is an autosomal recessive lysosomal storage disease. The disease de...
CONTEXT: Described originally in 1882, Gaucher's disease is the most prevalent of storage disorders....
Gaucher disease is the most common lysosomal storage disease. It is caused by the defective activity...
Gaucher disease is the most common lysosomal storage disease. It is caused by the defective activity...
Introduction: Gaucher’s disease is a hereditary disease that can be diagnosed by determination of ac...
Aim: Gaucher disease is a rare lysosomal storage disease. Enzyme replacement therapy has proven to b...
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a de...
Gaucher disease (GD) is a rare autosomal recessive metabolic disorder. It is characterized by a defi...
Add to ORKG