TY  - BOOK
AU  - Chiong,Mary Anne D.
AU  - Estrada,Sylvia C.
AU  - Cutiongco-de la Paz,Eva Maria C.
AU  - Yaplito-Lee,Joy
TI  - Gaucher disease in six Filipino children: a case series
KW  - Gaucher Disease
KW  - Glucosylceramidase
KW  - Glucosylceramides
KW  - Enzyme Replacement Therapy
KW  - Hepatosplenomegaly
KW  - Erlenmeyer Flask  Deformity
N2  - 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.
UR  - https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/2404/1726
ER  -