01329nam a22002417a 4500001001300000003000400013005001700017008004100034245010200075520050400177580006100681650002000742650002300762650002200785650003100807653002300838653003200861700002600893700002400919700004000943700002200983856008201005D0001J000067DOH20210219104454.0210219b           ||||| |||| 00| 0 eng d00aGaucher disease in six Filipino children: a case series /cMary Anne D. Chiong [and three others]3 aSix  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.   ain: Acta Medica Philippina, 2008 vol 42 (2) pages: 43-47 2aGaucher Disease 2aGlucosylceramidase 2aGlucosylceramides 2aEnzyme Replacement Therapy  aHepatosplenomegaly  aErlenmeyer Flask  Deformity1 aChiong, Mary Anne D. 1 aEstrada, Sylvia C. 1 aCutiongco-de la Paz,  Eva Maria C. 1 aYaplito-Lee, Joy   uhttps://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/2404/1726