4Kenneth F.Swaiman.Aminoacidopathies and or ganic acidemias resulting from deficiency of enzyme activity and transport abnomalities.Pediatric Neurology.principle & practice[M].3th edition.Mosby,Inc.1999.377-410.
6Georg F.Hoffmann,William L.Nyhan,Johannes Zschocke,et al.Organic acid analysis:Approach to the diagnosis of organic acidurias.In:Inherited meta bolic diseases[M].Philadelphia:Lippincott Williams & Wilkins,2002.319-327.
7Xiaowei Fu,Misago Iga,Masahiko Kimura.Simplified screening for organic acidemias using GC/MS and dried urine filter paper:a study on neonatal mass screening[J].Early Human Development,2000,58:41-55.
2Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Peidatrics, 1998, 102: 1-9.
3Lehotay DC, Clarke JT. Organic aeidurias and related abnormalities.Crit Rev Clin Lab Sci, 1995, 32: 377-429.
4Kuhara T, Shinka T, Inoue Y, et al. Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease. J Chromat.B, 1999, 731: 141-147.
5Fu XW, Iga M, Kimura M. Simplified screening for organic acidemias using GC/MS and dried urine filter paper: a study on neonatal mass screening. Early Human Development, 2000, 58:41-55.
6Chace DH, DiPema JC, Mitchell BL, et al. Electmspray tandem mass spectrometry for analysis of acylcamitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem, 2001,47:1166-1182.
7Scriver CR, Beaudet AL, Sly WS, et al (eds). The metabolic and molecular bases of inherited diseases. 8th ed. New York: McGraw-Hill, 2001.1-100.
8Tanaka K, Budd MA, Efron ML, et al. Isovaleric aiademia: a new genetic defect of leucine metabolism. Proc Nail Acad Sci USA,1966,56 : 236-242.
6Kobayashi H,Haseqawa Y,Endo M,et al.ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders[J].J Chromatogr B Analyt Technol Biomed Life Sci,2007,855(1):80-87.
7Hori D,Hasegawa Y,Kimura M,et al.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[J].Brain Dev,2005,27(1):39-45.
8Kuhara T.Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine,isotope dilution,and gas chroma tographymass spectrometry[J].J Chromatogr B,2002,781(1-2):497-517.
9Shinka T,Inoue Y,Yoshino M,et al.Two cases of benign methylmalonic aciduria detected during a pilot study of neonatal urine screening[J].J Chromatogr B,2002,776(1):65-70.
10Yorifuji T,Kawai M,Muroi J,et al.Unexpectedly high prevalence of the mild form of propionic acidemia in Japan:Presence of a common mutation and possible clinical implications[J].Hum Genet,2002,111(2):161-165.