Newborn screening for metabolic diseases

American Scientist

Volumn 90, Issue 1, 2002, Pages 40-47

  Millington, David S ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHILD HEALTH; DISEASE; HEALTH MONITORING;

UNITED STATES;

EID: 0036173193     PISSN: 00030996     EISSN: None     Source Type: Trade Journal    
DOI: 10.1511/2002.13.752     Document Type: Article

References (11)

1. Rapid diagnosis of phenylketonuria by quantitative analysis of phenylalanine and tyrosine in neonatal blood spots using tandem mass spectrometry
2. Diagnosis of metabolic disease
3. Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
4. The analysis of diagnostic markers of genetic disorders in human blood and urine using tandem mass spectrometry with liquid SIMS
5. Tandem mass spectrometry and newborn screening in North Carolina
6. Application of high resolution fast atom bombardment and constant B/E ratio linked scanning to the identification and analysis of acylcarnitines in metabolic disease
7. Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles
8. L-carnitine enhances excretion of propionyl-CoA as propionylcarnitine in propionic acidemia
9. Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying from sudden infant death or Reye-like syndromes
10. Newborn screening by tandem mass spectrometry: Gaining experience
11. 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 program