Chiong, Mary Anne D. Estrada, Sylvia C. Cutiongco-de la Paz, Eva Maria C. Yaplito-Lee, Joy text monographic eng

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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. Mary Anne D. Chiong [and three others] in: Acta Medica Philippina, 2008 vol 42 (2) pages: 43-47 Gaucher Disease Glucosylceramidase Glucosylceramides Enzyme Replacement Therapy Hepatosplenomegaly Erlenmeyer Flask Deformity https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/2404/1726 https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/2404/1726 210219 20210219104454.0 D0001J000067