Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
McHugh, David; Cameron, C. A.; Abdenur, J. E.et al.
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR editors. Newborn screening: toward a uniform screening panel and system [Executive summary]. Genet Med 2006; 8(suppl):1S-11S
Sebelius K, 2010. Available at: http://www.hrsa.gov/ heritabledisorderscommittee/ correspondence/response5-21-2010.pdf. Accessed November 1, 2010.
Puryear M, Weissman G, Watson M, Mann M, Strickland B, van Dyck PC. The regional genetic and newborn screening service collaboratives: the first two years. Ment Retard Dev Disabil Res Rev 2006;12:288-292. (Pubitemid 46053455)
Rinaldo P, Zafari S, Tortorelli S, Matern D. Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. Ment Retard Dev Disabil Res Rev 2006;12:255-261. (Pubitemid 46053451)
Sweetman L, Millington DS, Therrell BL, et al. Naming and counting disorders (conditions) included in newborn screening panels. Pediatrics 2006;117:S308-S314. (Pubitemid 46071318)
Editorial. Separated at birth. Nat Genet 2004;36:1127.
Natowicz M. Newborn screening-setting evidence-based policy for protection. N Engl J Med 2005;353:867.
Moyer VA, Calonge N, Teutsch SM, Botkin JR. Expanding newborn screening: process, policy, and priorities. Hastings Cent Rep 2008;38: 32-39.
Howell RR. Every child is priceless: debating effective newborn screening policy. Hastings Cent Rep 2009;39:4-6.
Tarini BA, Christakis DA, Welch HG. State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results. Pediatrics 2006;118:448-456. (Pubitemid 46085397)
Frazier DM, Millington DS, McCandless SE, et al. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J Inherit Metab Dis 2006;29:76-85.
Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 2003;348:2304-2312. (Pubitemid 36638104)
American College of Medical Genetics. Act sheets and confirmatory algorithms. Available at: www.acmg.net. Accessed November 29 2010.
Downs SM, van Dyck PC, Rinaldo P, et al. Improving newborn screening laboratory test ordering and result reporting using health information exchange. J Am Med Inform Assoc 2010;17:13-18.
Turgeon C, Magera MJ, Allard P, et al. Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem 2008;54:657-664. (Pubitemid 351573716)
Tortorelli S, Turgeon CT, McHugh DMS, et al. Two-tier approach to the newborn screening of methyleneteratrahydrofolate reductase deficiency and other re-methylation disorders by tandem mass spectrometry. J Pediatr 2010;157:271-275.
Perkin Elmer. StepOne® newborn screening. Available at: www. perkinelmergenetics.com. Accessed November 29, 2010.
Chace DH, Millington DS, Terada N, Kahler SG, Roe CR, Hofman LF. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem 1993;39:66-71. (Pubitemid 23034958)
Khalid JM, Oerton J, Besley G, et al. Relationship of octanoylcarnitine concentrations to age at sampling in unaffected newborns screened for medium-chain acyl-CoA dehydrogenase deficiency. Clin Chem 2010;56:1015-1021.
Duran M. Amino acids. In: Blau N, Duran N, Gibson KM, editors. Laboratory guide to the methods in biochemical genetics. Heidelberg: Springer-Heidelberg, 2008:53-89.
Allard P, Grenier A, Korson MS, Zytkovicz TH. Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots. Clin Biochem 2004;37:1010-1015. (Pubitemid 39388663)
Magera MJ, Gunawardena ND, Hahn SH, et al. Rapid quantitative determination of succinylacetone in dried blood spots by liquid chromatography tandem mass spectrometry. Mol Genet Metab 2006;88:16-21.
Sander J, Janzen N, Peter M, et al. Newborn screening for hepatorenal tyrosinemia: tandem mass spectrometric quantification of succinylacetone. Clin Chem 2006;52:482-487.
la Marca G, Malvagia S, Pasquini E, et al. The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs. Rapid Commun Mass Spectrom 2008;22:812-818. (Pubitemid 351442555)
la Marca G, Malvagia S, Funghini S, et al. The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program. Rapid Commun Mass Spectrom 2009;23:3891-3893.
Chace DH, Lim T, Hansen CR, De Jesus VR, Hannon WH. Improved MS/MS analysis of succinylacetone extracted from dried blood spots when combined with amino acids and acylcarnitine butyl esters. Clin Chim Acta 2009;407:6-9.
Puckett RL, Lorey F, Rinaldo P, et al. Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms. Mol Genet Metab 2010;100:136-142.
Gallagher RC, Cowan TM, Goodman SI, Enns GM. Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed. Mol Genet Metab 2005;86:417-420. (Pubitemid 41562571)
Ficicioglu C, Coughlin CR 2nd, Bennett MJ, Yudkoff M. Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry. J Pediatr 2010;156:492-494.
Bhattacharya K, Khalili V, Wiley V, Carpenter K, Wilcken B. Newborn screening may fail to identify intermediate forms of maple syrup urine disease. J Inher Metab Dis 2006;29:586.
Chace DH. Method for interpreting tandem mass spectrometry data for clinical diagnosis. US Patent No. 6,455,321 B1, September 24, 2002.
Lindner M, Ho S, Kölker S, Abdoh G, Hoffmann GF, Burgard P. Newborn screening for methylmalonic acidurias- optimization by statistical parameter combination. J Inherit Metab Dis 2008;31:379-385. (Pubitemid 351877790)
Rinaldo P, Cowan TM, Matern D. Acylcarnitine profile analysis. Genet Med 2008;10:151-156. (Pubitemid 351271727)
Carrozzo R, Dionisi-Vici C, Steuerwald U, et al. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 2007;130:862-874. (Pubitemid 46410746)
Van Hove JL, Saenz MS, Thomas JA, et al. Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. Pediatr Res 2010;68:159-164.
Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P. Reduction of the false positive rate in newborn screening by implementation of MS/MS-based second tier tests: the Mayo Clinic experience (2004-2007). J Inherit Metab Dis 2007;30:585-592. (Pubitemid 47377054)
la Marca G, Malvagia S, Pasquini E, Innocenti M, Donati MA, Zammarchi E. Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatographytandem mass spectrometry. Clin Chem 2007;53:1364-1369. (Pubitemid 47020995)
Oglesbee D, Sanders KA, Lacey JM, et al. Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD). Clin Chem 2008;54:542-549. (Pubitemid 351348164)
Forni S, Fu X, Palmer SE, Sweetman L. Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC-MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis. Mol Genet Metab 2010;101:25-32.
Shigematsu Y, Hata I, Tajima G. Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria. J Inherit Metab Dis 2010;33:S283-S288.
Turgeon CT, Magera MJ, Cuthbert CD, et al. Simultaneous determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. Clin Chem 2010;56:1686-1695.
Ibdah JA, Bennett MJ, Rinaldo P, et al. A fetal fatty acid oxidation disorder causes maternal liver disease of pregnancy. N Engl J Med 1999;340:1723-1731. (Pubitemid 29252600)
Fowler B, Leonard JV, Baumgartner MR. Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis 2008;31:350-360. (Pubitemid 351877788)
Greenberg CR, Dilling LA, Thompson GR, et al. The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations. Mol Genet Metab 2009;96:201-207.
Gessner BD, Gillingham MB, Birch S, Wood T, Koeller DM. Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant. Pediatrics 2010;126:945-951.
Smith EH, Thomas C, Gavrilov D, et al. Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. Mol Genet Metab 2010;100:241-250.
Ensenauer R, Vockley J, Willard JM, et al. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet 2004;75:1136-1142. (Pubitemid 39532082)
Nagan N, Kruckeberg KE, Tauscher AL, Snow-Bailey K, Rinaldo P, Matern D. The frequency of short-chain acyl-CoA dehydrogenase (SCAD) gene variants in the US American population and correlation with the C4 acylcarnitine concentration in newborn blood spots. Mol Gen Metab 2003;78:239-246. (Pubitemid 36428996)
Pedersen PB, K lvraa S, K lvraa A, et al. The ACADS gene variation spectrum in 114 patients with short chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Hum Genet 2008;124:43-56.
Skovby F, Gaustadnes M, Mudd SH. A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. Mol Genet Metab 2010;99:1-3.
