References
- Lee DH. The Past, Present, Future of Newborn Screening in Korea. Journal of the Korean Society of Inherited Metabolic Disease 2014;14(1):1-9.
- Maher S, Jjunju F PM, Taylor S. Colloquium: 100 years of mass spectrometry: Perspectives and future trends. Rev. Mod. Phys. 87(1):113-135. 2015. Bibcode: 2015RvMP...87..113M. doi:10.1103/RevModPhys.87.113.
- Millington DS, Terada N, Kodo K, Chace DH. A review: carnitine and acylcarnitine analysis in the diagnosis of metabolic diseases: advantages of tandem mass spectrometry. In: Matsumoto I, editor. Advances in chemical diagnosis and treatment of metabolic disorders, Vol 1. New York: John Wiley & Sons, 1992:59-71.
- Chace DH, Kalas TA, Naylor EW. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem 2003;49:1797-817. doi:10.1373/clinchem.2003.022178. PMID 14578311.
- Jaques AM, Collins VR, Pitt J, Halliday JL. Coverage of the Victorian newborn screening programme in 2003: a retrospective population study. J Paediatr Child Health 2008;44:498-503. https://doi.org/10.1111/j.1440-1754.2008.01332.x
- Metz MP, Ranieri E, Gerace RL, Priest KR, Luke CG, Chan A. Newborn screening in South Australia: is it universal?. Med J Aust 2003;179:412-5. https://doi.org/10.5694/j.1326-5377.2003.tb05618.x
- Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR. Newborn screening: toward a uniform screening panel and system. Genetics in Medicine 2006;8:1S-11S. https://doi.org/10.1097/01.gim.0000223891.82390.ad
- Choi TT, Lee DH. Results of Neonatal Screening Test and Prevalence at Birth of Phenylketonuria and Congenital Hypothyroidism for 15 Years in Korea. Journal of the Korean Society of Inherited Metabolic Disease 2006:6:24-31.
- Lee B, Lee J, Lee J, Kim SY, Kim JW, Min WK, et al. 10-year Analysis of Inherited Metabolic Diseases Diagnosed with Tandem Mass Spectrometry. Journal of the Korean Society of Inherited Metabolic Disease 2017;17:77-84.
- Cho SE, Park EJ, Seo DH, Lee IB, Lee HJ, Cho DY, et al. Neonatal Screening Tests for Inherited Metabolic Disorders using Tandem Mass Spectrometry: Experience of a Clinical Laboratory in Korea. Lab Med Online Vol. 5, No. 4: 196-203, October 2015 http://dx.doi.org/10.3343/lmo.2015.5.4.196.
- Tan ES, Wiley V, Carpenter K, Wilcken B. Nonketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening. Mol Genet Metab 2007;90:446-8. https://doi.org/10.1016/j.ymgme.2006.11.010
- Lindner M, Ho S, Kolker S, Abdoh G, Hoffmann GF, Burgard P. Newborn screening for methylmalonic acidurias--optimization by statistical parameter combination. J Inherit Metab Dis 2008;31:379-85. https://doi.org/10.1007/s10545-008-0892-z
- Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, et al. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. Mol Genet Metab 2006;88:16-21. https://doi.org/10.1016/j.ymgme.2005.12.005
- Haberle J, Pauli S, Schmidt E, Schulze-Eilfing B, Berning C, Koch HG. Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). Mol Genet Metab 2003;80:302-6. https://doi.org/10.1016/j.ymgme.2003.08.002
- Waisbren SE, Levy HL, Noble M, Matern D, Gregersen N, Pasley K, et al. Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms. Mol Gen Metab 2008;95:39-45. https://doi.org/10.1016/j.ymgme.2008.06.002
- Dantas MF, Suormala T, Randolph A, Coelho D, Fowler B, Valle D, et al. 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. Hum Mutat 2005;26:164.
- Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, et al. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Hum Mutat 2006;27:748-59. https://doi.org/10.1002/humu.20349
- Koeberl DD, Millington DS, Smith WE, Weavil SD, Muenzer J, McCandless SE, et al. Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. J Inherit Metab Dis 2003;26:25-35. https://doi.org/10.1023/A:1024015227863
- Campbell CD, Ganesh J, Ficicioglu C. Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency. Haematologica 2005;90(Suppl):ECR45.
- Oglesbee D, Sanders KA, Lacey JM, Magera MJ, Casetta B, Strauss KA, 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;54:542-9. https://doi.org/10.1373/clinchem.2007.098434
- 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 secondtier tests: the Mayo Clinic experience (2004-2007). J Inherit Metab Dis 2007;30:585-92. https://doi.org/10.1007/s10545-007-0691-y
- Gonzalez EC, Marrero N, Frometa A, Herrera D, Castells Newborn Screening 68 I Clin Biochem Rev Vol 31 May 2010 E, Perez PL. Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns. Clin Chim Acta 2006;369:35-9. https://doi.org/10.1016/j.cca.2006.01.009
- Moslinger D, Stockler-Ipsiroglu S, Scheibenreiter S, Tiefenthaler M, Muhl A, Seidl R, et al. Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. Eur J Pediatr 2001;160:277-82. https://doi.org/10.1007/s004310100740
- Weber P, Scholl S, Baumgartner ER. Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. Dev Med Child Neurol 2004;46:481-4.
- Korean Statistical Information Service (KOSIS). http://kosis.kr/index/index.do.