01375nam a22002657a 4500 D0001J000067 DOH 20210219104454.0 210219b ||||| |||| 00| 0 eng d Gaucher disease in six Filipino children: a case series / Mary Anne D. Chiong [and three others] 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 Gaucher Disease Glucosylceramidase Glucosylceramides Enzyme Replacement Therapy Hepatosplenomegaly Erlenmeyer Flask Deformity Chiong, Mary Anne D. Estrada, Sylvia C. Cutiongco-de la Paz, Eva Maria C. Yaplito-Lee, Joy https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/2404/1726 JA 2972 2972 0 0 nlm 0 0 DOHCL DOHCL ElectronicRes 2021-02-19 0 J000067 D0001J000067 2021-02-19 00:00:00 2021-02-19 JA