000			01375nam a22002657a 4500
001			D0001J000067
003			DOH
005			20210219104454.0
008			210219b ||||| |||| 00| 0 eng d
245	0	0	_aGaucher disease in six Filipino children: a case series / _cMary Anne D. Chiong [and three others]
520	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.
580			_ain: Acta Medica Philippina, 2008 vol 42 (2) pages: 43-47
650		2	_aGaucher Disease
650		2	_aGlucosylceramidase
650		2	_aGlucosylceramides
650		2	_aEnzyme Replacement Therapy
653			_aHepatosplenomegaly
653			_aErlenmeyer Flask Deformity
700	1		_aChiong, Mary Anne D.
700	1		_aEstrada, Sylvia C.
700	1		_aCutiongco-de la Paz, Eva Maria C.
700	1		_aYaplito-Lee, Joy
856			_uhttps://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/2404/1726
942			_cJA
999			_c2972 _d2972