1. van den Akker CHP, Saenz de Pipaon M, van Goudoever JB. Proteins and Amino Acids. World Rev Nutr Diet. 2021;122:75-88.. [
DOI:10.1159/000514748] [
PMID]
2. Young VR. Adult amino acid requirements: the case for a major revision in current recommendations. J Nutr. 1994;124(8 Suppl):1517S-1523S. [
DOI:10.1093/jn/124.suppl_8.1517S] [
PMID]
3. Wu G. Amino acids: metabolism, functions, and nutrition. Amino Acids. 2009;37(1):1-17. [
DOI:10.1007/s00726-009-0269-0] [
PMID]
4. Mak CM, Lee HC, Chan AY, Lam CW. Inborn errors of metabolism and expanded newborn screening: review and update. Crit Rev Clin Lab Sci. 2013;50(6):142-62. [
DOI:10.3109/10408363.2013.847896] [
PMID]
5. Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics. 2000;105(1):e10. [
DOI:10.1542/peds.105.1.e10] [
PMID]
6. Yunus ZM, Rahman SA, Choy YS, Keng WT, Ngu LH. Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges. J Pediatr Endocrinol Metab. 2016;29(9):1031-9. [
DOI:10.1515/jpem-2016-0028] [
PMID]
7. Jeanmonod R, Asuka E, Jeanmonod D. Inborn Errors of Metabolism. 2023 Jul 17. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024.
8. Kumta NB. Inborn errors of metabolism (IEM) -- an Indian perspective. Indian J Pediatr. 2005;72(4):325-32. [
DOI:10.1007/BF02724016]
9. McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med. 2011;13(3):230-54. [
DOI:10.1097/GIM.0b013e31820d5e67] [
PMID]
10. Sanderson S, Green A, Preece MA, Burton H. The incidence of inherited metabolic disorders in the West Midlands, UK. Arch Dis Child. 2006;91(11):896-9. [
DOI:10.1136/adc.2005.091637] [
PMID] [
]
11. Sarker SK, Islam MT, Biswas A, Bhuyan GS, Sultana R, Sultana N, et al. Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry. BioMed Research International. 2019;2019:3460902. [
DOI:10.1155/2019/3460902] [
PMID] [
]
12. Uaariyapanichkul J, Chomtho S, Suphapeetiporn K, Shotelersuk V, Punnahitananda S, Chinjarernpan P, et al. Age-Related Reference Intervals for Blood Amino Acids in Thai Pediatric Population Measured by Liquid Chromatography Tandem Mass Spectrometry. J Nutr Metab. 2018 May 6;2018:5124035. [
DOI:10.1155/2018/5124035] [
PMID] [
]
13. Nagaraja D, Mamatha SN, De T, Christopher R. Screening for inborn errors of metabolism using automated electrospray tandem mass spectrometry: study in high-risk Indian population. Clin Biochem. 2010;43(6):581-8. [
DOI:10.1016/j.clinbiochem.2009.12.009] [
PMID]
14. Fingerhut R, Silva Polanco ML, Silva Arevalo Gde J, Swiderska MA. First experience with a fully automated extraction system for simultaneous on-line direct tandem mass spectrometric analysis of amino acids and (acyl-)carnitines in a newborn screening setting. Rapid Commun Mass Spectrom. 2014;28(8):965-73. [
DOI:10.1002/rcm.6856] [
PMID]
15. Jones PM, Bennett MJ. The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry. Clin Chim Acta. 2002;324(1-2):121-8. [
DOI:10.1016/S0009-8981(02)00238-3] [
PMID]
16. Lepage N, Li D, Kavsak PA, Bamforth F, Callahan J, Dooley K, Potter M. Incomplete pediatric reference intervals for the management of patients with inborn errors of metabolism. Clin Biochem. 2006;39(6):595-9. [
DOI:10.1016/j.clinbiochem.2006.02.011] [
PMID]
17. Fekkes D. State-of-the-art of high-performance liquid chromatographic analysis of amino acids in physiological samples. J Chromatogr B Biomed Appl. 1996;682(1):3-22. [
DOI:10.1016/0378-4347(96)00057-6] [
PMID]
18. Erzurumluoglu AM, Shihab HA, Rodriguez S, Gaunt TR, Day IN. Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions. Ann Hum Genet. 2016;80(3):187-96. [
DOI:10.1111/ahg.12150] [
PMID] [
]
19. Haschke-Becher E, Kainz A, Bachmann C. Reference values of amino acids and of common clinical chemistry in plasma of healthy infants aged 1 and 4 months. J Inherit Metab Dis. 2016;39(1):25-37. [
DOI:10.1007/s10545-015-9870-4] [
PMID]
20. Oladipo OO, Weindel AL, Saunders AN, Dietzen DJ. Impact of premature birth and critical illness on neonatal range of plasma amino acid concentrations determined by LC-MS/MS. Mol Genet Metab. 2011;104(4):476-9. [
DOI:10.1016/j.ymgme.2011.08.020] [
PMID]
21. Jung B, Adeli K. Clinical laboratory reference intervals in pediatrics: the CALIPER initiative. Clin Biochem. 2009;42(16-17):1589-95. [
DOI:10.1016/j.clinbiochem.2009.06.025] [
PMID]
22. Friedrichs KR, Harr KE, Freeman KP, Szladovits B, Walton RM, Barnhart KF, Blanco-Chavez J; American Society for Veterinary Clinical Pathology. ASVCP reference interval guidelines: determination of de novo reference intervals in veterinary species and other related topics. Vet Clin Pathol. 2012;41(4):441-53. [
DOI:10.1111/vcp.12006] [
PMID]
23. Ghasemi A, Zahediasl S. Normality tests for statistical analysis: a guide for non-statisticians. Int J Endocrinol Metab. 2012;10(2):486-9. [
DOI:10.5812/ijem.3505] [
PMID] [
]
24. 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(3):321-4. [
DOI:10.1007/BF01799385] [
PMID]
25. 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(23):2304-12. [
DOI:10.1056/NEJMoa025225] [
PMID]
26. Rousseau F, Gigure Y, Berthier MT, Gurette D, Girard JG, Dry M. Newborn Screening By Tandem Mass Spectrometry: Impacts, Implications and Perspectives. Tandem Mass Spectrometry - Applications and Principles. InTech; 2012. [
DOI:10.5772/33118]
27. Amaral O. Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways. European Journal of Human Genetics. 2016;24(4):623. [
DOI:10.1038/ejhg.2015.145] [
]
28. Yang CJ, Wei N, Li M, Xie K, Li JQ, Huang CG, et al. Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China. BMC Pediatr. 2018;18(1):110. [
DOI:10.1186/s12887-018-1090-2] [
PMID] [
]
29. Morris M, Hoffman GI, Cerda B, Chace DH, Copeland S, Morrissey MA, et al. CLSI. Newborn Screening by Tandem Mass Spectrometry; CLSI Guideline I/LA32-A. Wayne, PA. Clinical and Laboratory Standards Institute; 2010. 2010.
30. Lepage N, McDonald N, Dallaire L, Lambert M. Age-specific distribution of plasma amino acid concentrations in a healthy pediatric population. Clin Chem. 1997;43(12):2397-402. [
DOI:10.1093/clinchem/43.12.2397] [
PMID]
31. Yi P, Liu L, Mei H, Zeng F, Huang Z, Niu H. Establishment of reference range of plasma amino acids for younger Chinese children by reverse phase HPLC. J Pediatr Endocrinol Metab. 2011;24(9-10):733-8. [
DOI:10.1515/JPEM.2011.270] [
PMID]
32. Dietzen DJ, Bennett MJ, Lo SF, Grey VL, Jones PM. Dried Blood Spot Reference Intervals for Steroids and Amino Acids in a Neonatal Cohort of the National Children's Study. Clin Chem. 2016;62(12):1658-1667. [
DOI:10.1373/clinchem.2016.263434] [
PMID]
33. Céspedes N, Valencia A, Echeverry CA, Arce-Plata MI, Colón C, Castiñeiras DE, et al. Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia. Colomb Med (Cali). 2017;48(3):113-119. [
DOI:10.25100/cm.v48i3.2180] [
PMID] [
]
34. Svasti J, Wasant P, Tiensuwan M, Sawangareetrakul P, Srisomsap C, Pangkanon S, et al. Normal plasma free amino acid levels in Thai children. J Med Assoc Thai. 2001;84(11):1558-68.
35. Bairova TA, Belskikh AV, Atalyan AV, Bugun OV, Nemchinova NV, Rychkova LV. Reference intervals of amino acid for newborns in North Asia: Diagnosing Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry. medRxiv. 2021:2021.04.13.21255444. [
DOI:10.1101/2021.04.13.21255444]