2Chakrapani A, Cleary MA, Wraith JE. Detection of inborn errors of metabolism in the hey, born [J]. Arch Dis Child Fetal Neonatal Ed, 2001 , 84(3 ) : F205-F210.
3Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis[J]. Pediatrics, 1998, 102 ( 6 ) : E69.
5Ellaway CJ, Wilcken B, Christodoulou J. Clinical approach to inborn errors of metagolism presenting in the newborn period[J]. J Paediatr Child Health, 2002, 38 ( 5 ) :511-517.
二级参考文献12
1Kuhara T, Shinka T, Inoue Y, et al. Pilot study of gas chromatography-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease[J]. J Chromatogr B,1999,731:141-147.
2Xu K, Wang L, Cai H, et al. Screening for newborn errors of metabolism using gas chromatography-mass spectrometry[J]. J Chromatogr B,2001,758:75-80.
3Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis[J]. Pediatrics,1998,102(6):E69.
4Zhang C, Xu K, Dave UP, et al. Inborn errors of metabolism discovered in asian department of pediatrics and mental retardation research center[J]. J Chromatogr B,2000,746:41-49.
5Matsumoto I, Kuhara T. A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical and simultaneous urinary metabolities analysis[J]. Mass Spectrom Rev,1996,15: 43-57.
6Kuhara T. Diagnosis of inborn errors of metabolosm using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry[J]. J Chromatogr B, 2001, 758:3-25.
7Ning C, Reynolds R, Chen J, et al. Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet[J]. Mol Genet Metab, 2001,72(4): 306-315.
8Costa CG, Guerand WS, Struys EA, et al. Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MS[J]. J Pharm Biomed Anal, 2000,21(6):1215-1224.
9Podebrad F, Heil M, Reichert S, et al. 4,5-dimethyl-3-hydroxy-2[5H]-furanone (sotolone)--the odour of maple syrup urine disease[J]. J Inherit Metab Dis, 1999,22(2):107-114.
10Kimura A, Kondo KH, Okuda KI, et al. Diagnosis of the first Japanese patient with 3-oxo-delta4-steroid 5beta-reductase deficiency by use of immunoblot analysis[J]. Eur J Pediatr,1998,157(5):386-390.