[25 years Austrian screening program for inborn errors of metabolism at the Vienna University].
The results are presented by the Austrian screening program for inborn errors of metabolism, which is one of the oldest and most comprehensive in the world. At present, the program comprises screening for the following diseases: phenylketonuria, galactosemia, homocystinuria, maple syrup urine disease, hypothyroidism, biotinidase deficiency. The results of the program with regard to diagnosed cases are presented: in total, 747 carriers of various inborn errors of metabolism have been detected by means of the Screening Program and were referred for therapy where appropriate.
Widhalm
K
K
Universitäts-Kinderklinik, Wien.
D001317:Austria / Q000453:epidemiology; D003362:Cost-Benefit Analysis; D003430:Cross-Sectional Studies; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control*; D015997:Neonatal Screening / Q000191:economics / Q000639:trends*
25 Jahre Osterreichisches Screening-Programm für angeborene Stoffwechselanomalien an der Universitätsklinik, Wien.