Gaucher disease in six Filipino children: a case series / Mary Anne D. Chiong [and three others]
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.| Cover image | Item type | Current library | Home library | Collection | Shelving location | Call number | Materials specified | Vol info | URL | Copy number | Status | Notes | Date due | Barcode | Item holds | Item hold queue priority | Course reserves | |
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Journal Article
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DOH Central Library Electronic Resource Section | J000067 (Browse shelf(Opens below)) | Available | D0001J000067 |
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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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