Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening

Kimura, 1999, Automated metabolic profiling and interpretation of GC/MS data for organic acidemia screening: a personal computer-based system, Tohoku J Exp Med, 188, 317, 10.1620/tjem.188.317

Fu, 2000, Simplified screening for organic acidemia using GC/MS and dried filter paper: a study on neonatal mass screening, Early Hum Dev, 58, 41, 10.1016/S0378-3782(00)00053-0

Fu, 2001, Gas chromatographic–mass spectrometric screening for organic acidemias using dried urine filter paper: determination of α-ketoacids, J Chromatogr B, 758, 87, 10.1016/S0378-4347(01)00101-3

Yamaguchi, 2001, Urinary organic acids in peroxisomal disorders: a simple screening method, J Chromatogr B, 758, 81, 10.1016/S0378-4347(01)00102-5

Iga, 2000, Rapid, simplified and sensitive method for screening fructose-1,6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode, J Chromatogr B, 746, 75, 10.1016/S0378-4347(00)00123-7

Tamaoki, 2002, A survey of Japanese patients with mitochondrial fatty acid β-oxidation and related disorders as detected from 1985 to 2000, Brain Dev, 24, 675, 10.1016/S0387-7604(02)00074-8

Tanaka, 1966, Isovaleric acidemia: a new genetic defect of isoleucine metabolism, Proc Natl Acad Sci USA, 56, 236, 10.1073/pnas.56.1.236

Applegarth, 2000, Incidence of inborn errors of metabolism in British Columbia, 1969–1996, Pediatrics, 105, e10, 10.1542/peds.105.1.e10

Sniderman, 1999, Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program, J Pediatr, 134, 675, 10.1016/S0022-3476(99)70280-5

Naylor, 1999, Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism, J Child Neurol, 14, S4, 10.1177/0883073899014001021

Wiley, 1999, Newborn screening with tandem mass spectrometry: 12 months experience in NSW Australia, Acta Paediatr Suppl, 88, 48, 10.1111/j.1651-2227.1999.tb01157.x

Zytkovicz, 2001, 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, Clin Chem, 47, 1945, 10.1093/clinchem/47.11.1945

Filiano, 2002, Tandem mass spectrometry and newborn screening: pilot data and review, Pediatr Neurol, 26, 201, 10.1016/S0887-8994(01)00384-8