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glucocerebroside/fatigue
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Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report.
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BACKGROUND
The most common lysosomal storage disorder is Gaucher disease (GD). It is a deficiency of lysosomal glucocerebrosidase (GBA) due to biallelic mutations in the GBA gene, characterized by the deposition of glucocerebroside in macrophage-monocyte system cells. The[French results of enzyme replacement therapy in Gaucher's disease].
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Gaucher disease is an inborn recessive autosomal disease due to a partial deficiency of the lysosomal enzyme beta glucocerebrosidase. The deficient activity leads to accumulation of the lipid glucocerebroside in the liver, the spleen and bone marrow with concomitant anemia and thrombocytopenia.
[Diagnosis and therapy of Gaucher disease. Current recommendations of German therapy centers in the year 2000].
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BACKGROUND
Gaucher's disease is the autosomally recessively inherited deficiency of the lysosomal enzyme glucocerebrosidase. Increasing storage of glucocerebrosides leads to a multisystem disease, the prevalence of which is about 1:40,000 in central Europe and up to 1:2,000 in some other countries
Pleural tuberculosis in a patient with untreated type 1 Gaucher disease.
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Gaucher disease (GD) is an autosomal recessive glycolipid storage disorder, due to deficiency of the lysosomal enzyme glucocerebrosidase, leading to accumulation of the substrate glucocerebroside in the cells of the macrophage-monocyte system. Patients with GD have alteration in their immune system
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