Expanded newborn screening using tandem mass spectrometry;Erweiterung des neugeborenenscreenings durch tandemmassenspektrometrie

Monatsschrift fur Kinderheilkunde

Volumn 149, Issue 12, 2001, Pages 1297-1303

  Roscher, A A ^a   Fingerhut, R ^b   Liebl, B ^c   Olgemoller B ^b  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b Labor Becker   (Germany)

^c Landesuntersuchungsamt für das Gesundheitswesen Südbayern ^*  (Germany)

Author keywords

Bavarian model program; Newborn screening; Tandem mass spectrometry

Indexed keywords

AMINO ACID METABOLISM; ARTICLE; DIAGNOSTIC VALUE; FATTY ACID METABOLISM; GERMANY; HUMAN; METABOLIC DISORDER; NEWBORN DISEASE; PHENYLKETONURIA; SCREENING TEST; TANDEM MASS SPECTROMETRY;

EID: 0035664102     PISSN: 00269298     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001120170015     Document Type: Article

References (18)

1. Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency
2. Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours
3. Newborn screening by tandem mass spectrometry: A new era
4. New developments in biochemical mass spectrometry: Electrospray ionization
5. Electrospray and tandem mass spectrometry in biochemistry
6. The biochemical metabolite screen in the Munich ENU Mouse Mutagenesis Project: Determination of amino acids and acylcarnitines by tandem mass spectrometry
7. Modellprojekt zur neuordnung des neugeborenenscreenings in bayern: Konzeption und erste ergebnisse
8. Very high compliance in an expanded MS-MS based newborn screening program despite written parental consent
9. Expanded newborn screening in Bavaria: Tracking to achieve requested repeat testing
10. High prevalence of the 1278T mutation of the human cystathionine beta-synthase detected by a novel screening application
11. Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I
12. Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children
13. Hepatic carnitine palmitoyltransferase I deficiency: Acylcarnitine profiles in blood spots are highly specific
14. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: Carboxylase deficiency
15. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England newborn screening
16. Medium-chain acyl-CoA dehydrogenase deficiency: Sudden and unexpected death of a 45 year old woman
17. Recognition and management of fatty acid oxidation defects: A series of 107 patients
18. Stellungnahme zur verwendung der tandemmasse nspektrometrie für das neugeborenen-screening vom 9.11.1998