Neonatal screening in Austria. Current situation, new developments and future perspectives

Padiatrische Praxis

Volumn 61, Issue 4, 2002, Pages 539-549

  Bodamer, O A ^a   Moslinger D ^a   Muhl A ^a   Stöckler Ipsiroglu, Sylvia ^a  

^a UNIV KLIN KINDER JUGENDHEILKUNDE   (Austria)

Author keywords

Genetic disorders; Population screening; Prevention

Indexed keywords

BIOTINIDASE;

ACIDURIA; ARTICLE; AUSTRIA; BLOOD SAMPLING; CONGENITAL ADRENAL HYPERPLASIA; CONGENITAL HYPOTHYROIDISM; CYSTIC FIBROSIS; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; ENDOCRINE DISEASE; ENZYME DEFICIENCY; EVALUATION; GALACTOSEMIA; HOSPITAL DISCHARGE; HUMAN; INBORN ERROR OF METABOLISM; LABORATORY TEST; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; PEDIATRIC HOSPITAL; PHENYLKETONURIA; QUALITY CONTROL; STANDARDIZATION; TANDEM MASS SPECTROMETRY; TREATMENT PLANNING; UNIVERSITY HOSPITAL;

EID: 0036347689     PISSN: 00309346     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. The introduction of newborn screening for phenylketonuria. A personal history
2. The first treatment of phenylketonuria
3. 21 Jahre »Österreichisches Programm zur Früherfassung angeborener Stoffwechselanomalien«. Brachten die Screeningprogramme auch wissenschaftliche Erkenntnisse?
4. Neugerborenen-Screening in Österreich
5. Long-term follow-up of 58 patients with histidinemia treated with a histidine-restricted diet: No effect of therapy
6. Newborn screening by tandem mass spectrometry (MS-MS)
7. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots
8. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship
9. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death
10. Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies
11. Tyrosinämie Typ I
12. Analysis of guanidinoacetate and creatine by isotope dilution ectrospray tandem mass-spectrometry
13. Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: A retrospective study
14. Neugeborenenscreening auf Zystische Fibrose (CF)