Gaucher disease in six Filipino children: a case series / Mary Anne D. Chiong [and three others]

Contributor(s): Subject(s): Online resources: Abstract: Six Filipino children with Gaucher disease are presented. All patients manifested marked hepatosplenomegaly, hematologic and skeletal abnormalities. The diagnosis was confirmed through bone marrow aspiration by demonstration of the characteristic ‘Gaucher cells’ and by leukocyte enzyme assay indicating deficient acid beta-glucosidase. Mutation analysis of the GBA gene was done in one patient. Two patients are receiving enzyme replacement therapy.
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Journal Article DOH Central Library Electronic Resource Section J000067 (Browse shelf(Opens below)) Available D0001J000067

Six Filipino children with Gaucher disease are presented. All patients manifested marked hepatosplenomegaly, hematologic and skeletal abnormalities. The diagnosis was confirmed through bone marrow aspiration by demonstration of the characteristic ‘Gaucher cells’ and by leukocyte enzyme assay indicating deficient acid beta-glucosidase. Mutation analysis of the GBA gene was done in one patient. Two patients are receiving enzyme replacement therapy.

in: Acta Medica Philippina, 2008 vol 42 (2) pages: 43-47

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