Gaucher’s disease is an inherited lysosomal storage disorder with a deficiency of the enzyme glucocerbrosidase that manifests with clinical features of anemia, hepato-splenomegaly, skeletal destruction and organ dysfunction due to the accumulation of glucocerbrosides. There are several types of Gaucher’s disease with varying prognosis and clinical progression of disease. We describe two cases followed at the Aga Khan University, Karachi, Pakistan, with different forms of the disorder. The enzyme Imiglucerase (Cerezyme, Genzyme) has been used to treat Type 1 Gaucher disease while the neuronopathic type has been resistant to therapy. We used Imiglucerase 60 µg/kg every 2 weeks in one patient with Type 1 Gaucher disease and followed hepatic, s...
Gaucher's disease is a rare lipid storage disorder, affecting one in 40,000-200,000 people and resul...
Aim: Gaucher disease is a rare lysosomal storage disease. Enzyme replacement therapy has proven to b...
AbstractBackgroundGaucher disease is an inborn, autosomal recessive error of the metabolism which be...
Gaucher\u27s disease is an inherited lysosomal storage disorder with a deficiency of the enzyme gluc...
Gaucher\u27s disease is an inherited lysosomal storage disorder with a deficiency of the enzyme gluc...
Gaucher\u27s disease is an inherited lysosomal storage disorder with a deficiency of the enzyme gluc...
Gaucher\u27s disease is an inherited lysosomal storage disorder with a deficiency of the enzyme gluc...
Gaucher\u27s disease is an inherited lysosomal storage disorder with a deficiency of the enzyme gluc...
Gaucher disease is the first lysosomal disease to benefit from enzyme replacement therapy, thus serv...
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a de...
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a de...
Gaucher’s disease is a lysosomal storage disease caused by the lack of beta-glucocerebrosidase enzym...
Gaucher disease is a rare autosomal recessive genetic disorder. It is caused by the deficiency of ly...
Gaucher’s syndrome is the distinguished prevailing disorder characterized under the lysosomal reposi...
Gaucher disease, a lysosomal storage disorder, is a multisystem disorder with variable and unpredict...
Gaucher's disease is a rare lipid storage disorder, affecting one in 40,000-200,000 people and resul...
Aim: Gaucher disease is a rare lysosomal storage disease. Enzyme replacement therapy has proven to b...
AbstractBackgroundGaucher disease is an inborn, autosomal recessive error of the metabolism which be...
Gaucher\u27s disease is an inherited lysosomal storage disorder with a deficiency of the enzyme gluc...
Gaucher\u27s disease is an inherited lysosomal storage disorder with a deficiency of the enzyme gluc...
Gaucher\u27s disease is an inherited lysosomal storage disorder with a deficiency of the enzyme gluc...
Gaucher\u27s disease is an inherited lysosomal storage disorder with a deficiency of the enzyme gluc...
Gaucher\u27s disease is an inherited lysosomal storage disorder with a deficiency of the enzyme gluc...
Gaucher disease is the first lysosomal disease to benefit from enzyme replacement therapy, thus serv...
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a de...
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a de...
Gaucher’s disease is a lysosomal storage disease caused by the lack of beta-glucocerebrosidase enzym...
Gaucher disease is a rare autosomal recessive genetic disorder. It is caused by the deficiency of ly...
Gaucher’s syndrome is the distinguished prevailing disorder characterized under the lysosomal reposi...
Gaucher disease, a lysosomal storage disorder, is a multisystem disorder with variable and unpredict...
Gaucher's disease is a rare lipid storage disorder, affecting one in 40,000-200,000 people and resul...
Aim: Gaucher disease is a rare lysosomal storage disease. Enzyme replacement therapy has proven to b...
AbstractBackgroundGaucher disease is an inborn, autosomal recessive error of the metabolism which be...