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Article

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.

European journal of pediatrics - 1 Feb 2004

Grabowski Gregory A, Andria Generoso, Baldellou Antonio, Campbell Pauline E, Charrow Joel, Cohen Ian J, Harris Chris M, Kaplan Paige, Mengel Eugen, Pocovi Miguel, Vellodi Ashok

Abstract excerpt

UNLABELLED: Gaucher disease is caused by defective activity of glucocerebrosidase. The resulting accumulation of glucocerebroside in the lysosomes of visceral macrophages in various tissue and organ compartments leads to multiple manifestations, including hepatosplenomegaly, anemia, thrombocytopenia, growth retardation and skeletal disease. The most prevalent form of Gaucher disease is the non-neuronopathic (type...

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Identifiers

PMID: 14677061
DOI: 10.1007/s00431-003-1362-0

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