Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: A model for clinical mass spectrometry in the next millennium

Acta Paediatrica, International Journal of Paediatrics, Supplement

Volumn 88, Issue 432, 1999, Pages 45-47

  Chace, D H ^a,b   DiPerna, J C ^a   Naylor, E W ^a  

^a Neo Gen Screening   (United States)

^b NONE   (United States)

Author keywords

Acylcarnitines; Amino acids; Inherited metabolic disease; Neonatal screening; Tandem mass spectrometry

Indexed keywords

ACYLCARNITINE; AMINO ACID;

BLOOD SAMPLING; CONFERENCE PAPER; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC ACCURACY; HUMAN; LABORATORY TEST; METABOLIC DISORDER; MODEL; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; QUALITY CONTROL; TANDEM MASS SPECTROMETRY; TECHNOLOGY;

EID: 0033430257     PISSN: 08035326     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1651-2227.1999.tb01156.x     Document Type: Conference Paper

References (4)

1. 1. Chace DH, Adam BW, Smith J, Alexander JR, Hillman SL, Hannon WH. Validation of accuracy-based amino acid reference materials in dried-blood spots by tandem mass spectrometry for newborn screening assays. Clin Chem 1999; 45: in press
2. 2. Chace DH, Sherwin JE, Hillman SL, Lorey F, Cunningham GC. 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. Clin Chem 1998; 44: 2405-9
3. 3. Chace DH, Hillman SL, Van Hove JK, Naylor EW. Rapid Diagnosis of MCAD deficiency. Quantitative analysis of octanoylcarnitine and other acylcarntines by MS/MS. Clin Chem 1997; 43: 2106
4. 4. Chace DH, Hillman SL, Millington DS, Kahler SG, Adam BW, Levy HI.. Rapid diagnosis of homocystinuria and other hypermetioninemias from newborn blood spots by tandem mass spectrometry. Clin Chem 1996; 42: 349-55