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245	0	0	_aGalactosemia in three Filipino patients - The importance of newborn screening / _cJohn Karl de Dios [and two others]
520	3		_aDisorders of galactose metabolism can be fatal if not treated early. Newborn screening has made it possible to detect and treat this disease. Three cases of galactosemia, one with galactokinase deficiency and two with galactose-1-phosphate uridyltransferase deficiency detected by newborn screening, are presented. Because of early detection and management, the first patient was spared the early complications of galactosemia and continues to grow and develop normally. The two other patients were diagnosed at 1 month, initial presentation included hepatomegaly and failure to thrive. Institution of treatment was able to reverse the acute complications and both are currently doing well. The importance of galactosemia newborn screening in preventing complications resulting from the disease is emphasized.
580			_aIn: Acta Medica Philippina, 2009 vol 43 (2) pages: 15-17
650		2	_aGalactosemias
650		2	_aNeonatal Screening
700	1		_ade Dios, John Karl
700	1		_aCapistrano-Estrada, Sylvia
700	1		_aChiong, Mary Anne D.
942			_cJA
999			_c3111 _d3111