Newborn screening for inborn errors of metabolism is going to expand: Are we ready?

Journal of Pediatrics

Volumn 134, Issue 6, 1999, Pages 666-667

  Cederbaum, S ^a   Vilain, E ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

METHYLMALONIC ACID; PHENYLALANINE;

AMINO ACID BLOOD LEVEL; EDITORIAL; GENETIC ASSOCIATION; HEALTH CARE NEED; INBORN ERROR OF METABOLISM; MEDICAL LITERATURE; METHYLMALONIC ACIDURIA; NEWBORN SCREENING; PHENYLKETONURIA; PRIORITY JOURNAL; SCREENING TEST;

EID: 0033504869     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(99)70278-7     Document Type: Editorial

References (5)

1. LC Sniderman M Lambert R Giguère C Auray-Blais B Lemieux R Laframboise Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program J Pediatr 134 1999 675 680
2. E Kayaalp E Treacy PJ Waters S Byck P Nowacki CR. Scriver Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations Am J Hum Genet 61 1997 1309 1317
3. HL. Levy Newborn screening by tandem mass spectrometry: a new era Clin Chem 44 1998 2401 2402
4. DH Chace JE Sherwin SL Hillman F Lorey GC. Cunningham 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 44 1998 2405 2409
5. MJ Thomason J Lord MD Bain RA Chalmers P Littlejohns GM Addison A systematic review of evidence for the appropriateness of neonatal screening programs for inborn errors of metabolism J Public Health Med 20 1998 331 343