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Gaucher disease

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The Journal of Human Genetics has published an article about Gaucher disease. Gaucher disease (GD) is an inherited metabolic disorder that involves accumulation of glycolipid glucocerebroside in monocyte-macrophage cells, which can result in multiple organ damage. Enzyme replacement and substrate reduction therapies have improved the potential for early diagnosis and treatment. The full-text article you can find here.

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