7Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Peidatrics, 1998, 102: 1-9.
8Lehotay DC, Clarke JT. Organic aeidurias and related abnormalities.Crit Rev Clin Lab Sci, 1995, 32: 377-429.
9Kuhara 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.
10Fu 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.
1Wolf B,Heard GS.Screening for biotinidase deficiency in newborns:worldwide experience.Pediatrics,1990,85:512-517.
2Aoki Y,Suzuki Y,Sakamoto O,et al.Molecular analysis of holocarboxylase synthetase deficiency:a missense mutation and a single base deletion are predominant in Japanese patients.Biochim Biophys Acta,1995,1272:168-174.
3Xue Y,Yoko A,Xue L,et al.Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations.J Hum Genet,2000,45:358-362.
4Tang NL,Hui J,Yong CK,et al.A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.Clin Biochem,2003,36:145-149.
5Hwu WL,Suzuki Y,Yang X,et al.Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.J Formos Med Assoc,2000,99:174-177.
6Dupuis L,Campeau E,Leclerc D,et al.Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency.Mol Genet Metab,1999,66:80-90.