Add to ORKGWe aim to describe an 8-year-old boy with an unusual clinical presentation of Gaucher disease (GD). Gaucher disease is a progressive lysosomal storage disorder due to deficiency of the specific enzyme glucocerebrosidase with varying clinical features, but often involving the monocytes-macrophages systems. This child ran a progressive course with a devastating outcome. Three distinct GD subtypes have been described with varying clinical features based on the presence or absence of neurologic involvement. Gaucher disease diagnosis is obtained via: enzyme activity assay, gene mutation study, bone marrow aspiration in addition to multiple other tests that have been successfully used in diagnosis of cases of GD. Treatment modalities include enzy...
Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme gl...
Aim: Gaucher disease is a rare lysosomal storage disease. Enzyme replacement therapy has proven to b...
In individuals with non-neuronopathic Gaucher disease, childhood manifestations are usually predicti...
Gaucher′s disease is the most common lysosomal storage disorder gene defect, which leads to d...
Gaucher disease is a rare autosomal recessive genetic disorder. It is caused by the deficiency of ly...
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...
Background: Gaucher disease is a sphingolipidosis, an inherited disorder of metabolism resulting fro...
Background: Gaucher disease is a sphingolipidosis, an inherited disorder of metabolism resulting fro...
T Andrew Burrow, Sonya Barnes, Gregory A GrabowskiThe Division of Human Genetics, Cincinnati Childre...
Gaucher disease (GD), the most common inherited lysosomal storage disorder, is a multiorgan disease ...
Abstract Background Gaucher disease is an autosomal recessive disorder resulting from the accumulati...
Gaucher disease (GD) is caused by an enzyme deficiency that leads to the accumulation of glycolipids...
Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it...
Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme gl...
Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme gl...
Aim: Gaucher disease is a rare lysosomal storage disease. Enzyme replacement therapy has proven to b...
In individuals with non-neuronopathic Gaucher disease, childhood manifestations are usually predicti...
Gaucher′s disease is the most common lysosomal storage disorder gene defect, which leads to d...
Gaucher disease is a rare autosomal recessive genetic disorder. It is caused by the deficiency of ly...
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...
Background: Gaucher disease is a sphingolipidosis, an inherited disorder of metabolism resulting fro...
Background: Gaucher disease is a sphingolipidosis, an inherited disorder of metabolism resulting fro...
T Andrew Burrow, Sonya Barnes, Gregory A GrabowskiThe Division of Human Genetics, Cincinnati Childre...
Gaucher disease (GD), the most common inherited lysosomal storage disorder, is a multiorgan disease ...
Abstract Background Gaucher disease is an autosomal recessive disorder resulting from the accumulati...
Gaucher disease (GD) is caused by an enzyme deficiency that leads to the accumulation of glycolipids...
Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it...
Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme gl...
Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme gl...
Aim: Gaucher disease is a rare lysosomal storage disease. Enzyme replacement therapy has proven to b...
In individuals with non-neuronopathic Gaucher disease, childhood manifestations are usually predicti...