Bibliography
- Diane Paul and Jeffrey Brosco. The PKU paradox: a short history of a genetic condition. Johns Hopkins University Press; Baltimore, MD: 2013
- Guthrie R. Blood screening for phenylketonuria. JAMA 1961;178:863
- Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963;32:338-43
- Therrell BL, Adams J. Newborn Screening in North America. J Inherit Metab Dis 2007;30:447-65
- Buist NR, Tuerck JM. The practitioner’s role in newborn screening. Pediatr Clin North Am 1992;39:199-211
- Garrick MD, Dembure P, Guthrie R. Sickle-cell anemia and other hemoglobinopathies. Procedures and strategy for screening employing spots of blood on filter paper as specimens. N Engl J Med 1973;288:1265-8
- Weaver MA, Johnson A, Singh RH, et al. Medical foods: inborn errors of metabolism and the reimbursement dilemma. Genet Med 2010;12:364-9
- Millington DS, Kodo N, Norwood DL, Roe CR. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis 1990;13:321-4
- Chace DH, Millington DS, Terada N, et al. 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
- Chace DH, Hillman SL, Millington DS, et al. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem 1995;41:62-8
- Serving the family from birth to the medical home. Newborn screening: a blueprint for the future. Pediatrics 2000;106(2 Part 2):389-422
- Newborn screening: toward a uniform screening panel and system. Genet Med 2006;8:1S-252S
- Wilson JM, Jungner YG. Principles and practice of screening for disease. World Health Organization, Geneva. 1968. Available from: http://whqlibdoc.who.int/php/WHO_PHP_34.pdf [Accessed August 11, 2014]
- Kemper AR, Green NS, Calonge N, et al. Jr. Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. Genet Med 2014;16:183-7
- Derks TG, Reijngoud DJ, Waterham HR, et al. The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Pediatr 2006;148:665-70
- Iafolla AK, Thompson RJ Jr, Roe CR. Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr 1994;124:409-15
- Haas M, Chaplin M, Joy P, et al. Healthcare use and costs of medium-chain acyl-coa dehydrogenase deficiency in Australia: screening versus no screening. J Pediatr 2007;151:121-6
- van der Hilst CS, Derks TG, Reijngoud DJ, et al. Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands. J Pediatr 2007;151:115; e1-3
- Calonge N, Green NS, Rinaldo P, et al. Advisory Committee on Heritable Disorders in Newborns and Children. Committee report: method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med 2010;12:153-9
- Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 2005;115:391-8
- McGhee SA, Stiehm ER, Cowan M, et al. Two-tiered universal newborn screening strategy for severe combined immunodeficiency. Mol Genet Metab 2005;86:427-30
- Gerstel-Thompson JL, Wilkey JF, Baptiste JC, et al. High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening. Clin Chem 2010;56:1466-74
- Baker MW, Grossman WJ, Laessig RH, et al. Development of a routine newborn screening protocol for severe combined immunodeficiency. J Allergy Clin Immunol 2009;124:522-7
- Kwan A, Abraham RS, Currier R, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United states. JAMA 2014;312(7):729-38
- Caggana M, Jones EA, Shahied SI, et al. Newborn Screening: from Guthrie to whole genome sequencing. Public Health Rep 2013;128(Suppl 2):14-19
- Steiner RD. Commentary on: "Newborn screening for Krabbe Disease: the New York state model" and "the long-term outcomes of presymptomatic infants transplanted for Krabbe disease. A report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York". Genet Med 2009;11:411-3
- Wenger DA, Coppola S, Liu SL. Insights into the diagnosis and treatment of lysosomal storage diseases. Arch Neurol 2003;60:322-8
- Malatack JJ, Consolini DM, Bayever E. The status of hematopoietic stem cell transplantation in lysosomal storage disease. Pediatr Neurol 2003;29:391-403
- Wang RY, Bodamer OA, Watsin MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med 2011;13:457-84
- Millington DS, Sista R, Eckhardt A, et al. Digital microfluidics: a future technology in the newborn screening laboratory? Semin Perinatol 2010;34:163-9
- Li Y, Brockmann K, Turecek F, et al. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. Clin Chem 2004;50:638-40
- Chamoles NA, Blanco M, Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 2001;308:195
- Chamoles NA, Blanco M, Gaggioli D, Casentini C. Gaucher and Niemann-Pick diseases—enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin Chim Acta 2002;317:191-7
- Zhang XK, Elbin CS, Chuang WL, et al. Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin Chem 2008;54:1725-8
- Blanchard S, Sadilek M, Scott CR, et al. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I. Clin Chem 2008;54:2067-70
- Wang D, Wood T, Sadilek M, et al. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease). Clin Chem 2007;53:137-40
- Wilcox WR. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr 2004;144:S3-14
- Kemper AR, Knapp AA, Green NS, et al. Weighing the evidence for newborn screening for early infantile Krabbe disease. Genet Med 2010;12:539-43
- Duffner PK, Caggana M, Orsini JJ, et al. Newborn screening for Krabbe disease: the New York state model. Pediatr Neurol 2009;40:245-52
- Plass AM, van El CG, Pieters T, Cornel MC. Neonatal screening for treatable and untreatable disorders: prospective parents’ opinions. Pediatrics 2010;125:e99-e106
- Pillers DA. A new day for Duchenne’s?: the time has come for newborn screening. Mol Genet Metab 2014;113:11-13
- Tassone F. Newborn Screening for fragile X syndrome. JAMA Neurol 2014;71:355-9
- Oglesbee D, Kroll C, Gakh O, et al. High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood. Clin Chem 2013;59:1461-9
- DeBarber AE, Luo J, Star-Weinstock M, et al. A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns. J Lipid Res 2014;55:146-54
- Kaiser J. Genomics. Researchers to explore promise, risks of sequencing newborns’ DNA. Science 2013;341:1163
- Alexander D, Van Dyck PC. A vision of the future of newborn screening. Pediatrics 2006;117:S350-4
- Available from: http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/ [Accessed 1 October 2014]