[1] 段薇.串联质谱在新生儿遗传性代谢疾病筛查中的应用[J].中华检验医学杂志,2007,30(7):816-817.
[2] Millington DS, Kodo N, Norwood DL, et al. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism[J]. Journal of Inherited Metabolic Disease,1990,13:321-324.
[3] Rashed MS, Ozand PT, Bucknall MP, et al. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry[J]. Pediatr Res,1995,38:224-331.
[4] Chace DH, DiPerna JC, Naylor EW. Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium[J]. Acta Pediatr,1999,88:45-47.
[5] Schulze A, Lindner M, Kohlmüller D, et al. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications[J]. Pediatrics,2003,111:1399-1406.
[6] Hissa M, George C, Revi M, et al. Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia,1983—2008[J]. Ann Saudi Med,2010,30:271-277.
[7] Wilcken B, Wiley V, Hammond J, et al. Screening for newborn errors of metabolism by tandem mass spectrometry[J]. N Engl J Med,2003,348:2304-2312.
[8] Dau-Ming N, Yin-Hsiu C, Chuan-Chi C, et al. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan[J]. J Inherit Metab Dis,2010,33:395-305.
[9] Hewlett J, Waisbren SE. A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening[J]. J Inherit Metab Dis,2006,29:677-682.
[10] Turgeon C, Magera MJ, Allard P, et al. Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots[J]. Clin Chem,2008,54:657-664.
[11] Naughten ER, Yap S, Mayne PD. Newborn screening for homocystinuria: Irish and world experience[J]. Eur J Pediatr,1998,157(S):84-87.
[12] Cheng KH, Hung MC, Chen SJ, et al. Lenticular subluxation in a patient with homocystinuria undetected by neonatal screening[J]. J Chin Med Assoc,2007,70:562-564.
[13] Gan-Schreier H, Kebbewar M, Fang-Hoffmann J, et al. Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards[J]. J Pediatr,2010,156:427-732.
[14] Zytkovicz TH, Fitzgerald EF, Marsden D, et al. 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[J].Clin Chem,2001,47:1945-1955.
[15] Kwon C, Farrell PM. The magnitude and challenge of false-positive newborn screening test results[J]. Arch Pediatr Adolesc Med,2000,154:714-718.
[16] Kevin H, Carpenter, Veronica Wiley. Application of tandem mass spectrometry to biochemical genetics and newborn screening[J]. Clinica Chimica Acta,2002,322:1-10. |
