{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T20:06:33Z","timestamp":1762459593440,"version":"3.40.3"},"publisher-location":"Berlin, Heidelberg","reference-count":49,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"type":"print","value":"9783662580806"},{"type":"electronic","value":"9783662580813"}],"license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018]]},"DOI":"10.1007\/8904_2018_109","type":"book-chapter","created":{"date-parts":[[2018,5,12]],"date-time":"2018-05-12T05:22:48Z","timestamp":1526102568000},"page":"109-117","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone"],"prefix":"10.1007","author":[{"given":"A. S.","family":"Davison","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. P.","family":"Norman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. A.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Devine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Usher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. T.","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Khedr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. M.","family":"Milan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. A.","family":"Gallagher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. R.","family":"Ranganath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,5,13]]},"reference":[{"key":"109_CR1","first-page":"64","volume":"51","author":"I Antener","year":"1981","unstructured":"Antener I, Tonney G, Verwilghen AM (1981) Biochemical study of malnutrition. Part IV. Determination of amino acids in the serum, erythrocytes, urine and stool ultrafiltrates. Int J Vitam Nutr Res 51:64\u201378","journal-title":"Int J Vitam Nutr Res"},{"key":"109_CR2","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1016\/0026-0495(73)90069-3","volume":"22","author":"MD Armstrong","year":"1973","unstructured":"Armstrong MD, Stave U (1973a) A study of plasma free amino acid levels. II. Normal values for children and adults. Metabolism 22:561\u2013569","journal-title":"Metabolism"},{"key":"109_CR3","doi-asserted-by":"publisher","first-page":"821","DOI":"10.1016\/0026-0495(73)90053-X","volume":"22","author":"MD Armstrong","year":"1973","unstructured":"Armstrong MD, Stave U (1973b) A study of plasma free amino acid levels. IV. Characteristic individual levels of the amino acids. Metabolism 22:821\u2013825","journal-title":"Metabolism"},{"key":"109_CR4","doi-asserted-by":"publisher","first-page":"827","DOI":"10.1016\/0026-0495(73)90054-1","volume":"22","author":"MD Armstrong","year":"1973","unstructured":"Armstrong MD, Stave U (1973c) A study of plasma free amino acid levels. V. Correlations among the amino acids and between amino acids and some other blood constituents. Metabolism 22:827\u2013833","journal-title":"Metabolism"},{"key":"109_CR5","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1016\/j.jpeds.2013.10.001","volume":"164","author":"F Bendadi","year":"2014","unstructured":"Bendadi F, de Koning TJ, Visser G et al (2014) Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone. J Pediatr 164:398\u2013401","journal-title":"J Pediatr"},{"issue":"3","key":"109_CR6","doi-asserted-by":"publisher","first-page":"e249","DOI":"10.1038\/nutd.2016.55","volume":"7","author":"X Bi","year":"2017","unstructured":"Bi X, Henry CJ (2017) Plasma-free amino acid profiles are predictors of cancer and diabetes development. Nutr Diabetes 7(3):e249","journal-title":"Nutr Diabetes"},{"key":"109_CR7","unstructured":"Biochrom Ltd Instructions for use of Biochrom 30+ Amino Acid Analyser (2018) Version: 41 56 1783 IVD instruction for use English is 16.doc \n                  http:\/\/www.biochrom.co.uk\/user_downloads\/?c=17"},{"key":"109_CR8","unstructured":"Bowron A, Brown A, Deverell D et al (2012) Metbionet guidelines for amino acid analysis. \n                  http:\/\/www.metbio.net\/docs\/MetBio-Guideline-RUKU658761-20-01-2012.pdf"},{"key":"109_CR9","doi-asserted-by":"publisher","first-page":"1249","DOI":"10.1093\/ajcn\/53.5.1249","volume":"53","author":"B Caballero","year":"1991","unstructured":"Caballero B, Gleason RE, Wurtman RJ (1991) Plasma amino acid concentrations in healthy elderly men and women. Am J Clin Nutr 53:1249\u20131252","journal-title":"Am J Clin Nutr"},{"key":"109_CR10","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1080\/07315724.1999.10718876","volume":"18","author":"YC Chan","year":"1999","unstructured":"Chan YC, Suzuki M, Yamamoto S (1999) A comparison of anthropometry, biochemical variables and plasma amino acids among centenarians, elderly and young subjects. J Am Coll Nutr 18:358\u2013365","journal-title":"J Am Coll Nutr"},{"key":"109_CR11","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1007\/s11306-017-1288-6","volume":"13","author":"S Crotti","year":"2017","unstructured":"Crotti S, D\u2019Angelo E, Bedin C et al (2017) Tryptophan metabolism along the kynurenine and serotonin pathways reveals substantial differences in colon and rectal cancer. Metabolomics 13:148\u2013157","journal-title":"Metabolomics"},{"issue":"2","key":"109_CR12","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1111\/j.1365-277X.2011.01215.x","volume":"25","author":"A Daly","year":"2012","unstructured":"Daly A, Gokmen-Ozel H, MacDonald A et al (2012) Diurnal variation of phenylalanine concentrations in tyrosinaemia type 1: should we be concerned? J Hum Nutr Diet Off J British Diet Assoc 25(2):111\u2013116","journal-title":"J Hum Nutr Diet Off J British Diet Assoc"},{"key":"109_CR13","doi-asserted-by":"publisher","first-page":"e81","DOI":"10.1515\/cclm-2014-0668","volume":"53","author":"AS Davison","year":"2015","unstructured":"Davison AS, Milan AM, Hughes AT et al (2015) Serum concentrations and urinary excretion of tyrosine and homogentisic acid in normal subjects. Clin Chem Lab Med 53:e81\u2013e83","journal-title":"Clin Chem Lab Med"},{"issue":"2","key":"109_CR14","first-page":"203","volume":"39","author":"AS Davison","year":"2016","unstructured":"Davison AS, Milan AM, Gallagher JA (2016) Acute fatal metabolic complications in alkaptonuria [review]. JIMD 39(2):203\u2013210","journal-title":"JIMD"},{"key":"109_CR15","doi-asserted-by":"publisher","unstructured":"Davison AS, Norman B, Milan AM et al (2017) Assessment of the effect of once daily nitisinone therapy on 24-h urinary metadrenalines and 5-hydroxyindole acetic acid excretion in patients with alkaptonuria after 4 weeks of treatment. JIMD Rep. \n                  https:\/\/doi.org\/10.1007\/8904_2017_72","DOI":"10.1007\/8904_2017_72"},{"key":"109_CR16","doi-asserted-by":"publisher","first-page":"962","DOI":"10.1111\/j.1469-8749.2011.04048.x","volume":"53","author":"C Laet De","year":"2011","unstructured":"De Laet C, Munoz VT, Jaeken J et al (2011) Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1. Dev Med Child Neurol 53:962\u2013964","journal-title":"Dev Med Child Neurol"},{"issue":"1","key":"109_CR17","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1007\/s11064-013-1207-9","volume":"39","author":"SD Pra De","year":"2014","unstructured":"De Pra SD, Ferreira GK, Carvalho-Silva M et al (2014) L-tyrosine induces DNA damage in brain and blood of rats. Neurochem Res 39(1):202\u2013207","journal-title":"Neurochem Res"},{"issue":"1","key":"109_CR18","first-page":"77","volume":"80","author":"JE Fischer","year":"1976","unstructured":"Fischer JE, Rosen HM, Ebeid AM (1976) The effect of normalization of plasma amino acids on hepatic encephalopathy in man. Surgery 80(1):77\u201391","journal-title":"Surgery"},{"issue":"5","key":"109_CR19","doi-asserted-by":"publisher","first-page":"735","DOI":"10.1007\/s10545-013-9675-2","volume":"37","author":"CO Harding","year":"2014","unstructured":"Harding CO, Winn SR, Gibson KM (2014) Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU). J Inherit Metab Dis 37(5):735\u2013743","journal-title":"J Inherit Metab Dis"},{"key":"109_CR20","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1007\/s10545-016-9949-6","volume":"39","author":"MA Hillgartner","year":"2016","unstructured":"Hillgartner MA, Coker SB, Koenig AE et al (2016) Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice. J Inherit Metab Dis 39:673\u2013682","journal-title":"J Inherit Metab Dis"},{"key":"109_CR21","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1016\/j.ymgme.2011.04.016","volume":"103","author":"WJ Introne","year":"2011","unstructured":"Introne WJ, Perry MB, Troendle J et al (2011) A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab 103:307\u2013314","journal-title":"Mol Genet Metab"},{"key":"109_CR22","doi-asserted-by":"publisher","unstructured":"Khedr M, Judd S, Briggs MC, Hughes AT et al (2017) Asymptomatic corneal keratopathy secondary to hypertyrosinaemia following low dose nitisinone and a literature review of tyrosine keratopathy in alkaptonuria. JIMD Rep. \n                  https:\/\/doi.org\/10.1007\/8904_2017_62","DOI":"10.1007\/8904_2017_62"},{"issue":"5","key":"109_CR23","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1515\/cclm-2011-0846","volume":"50","author":"T Kouchiwa","year":"2012","unstructured":"Kouchiwa T, Wada K, Uchiyama M et al (2012) Age-related changes in serum amino acids concentrations in healthy individuals. Clin Chem Lab Med 50(5):861\u2013870","journal-title":"Clin Chem Lab Med"},{"key":"109_CR24","unstructured":"Lieberman HR (1999) Amino acid and protein requirements: cognitive performance, stress, and brain function. In: The Committee on Military Nutrition Research (ed) The role of protein and amino acids in sustaining and enhancing performance. National Academy Press, Washington, DC, pp 289\u2013307"},{"issue":"8823","key":"109_CR25","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1016\/0140-6736(92)92685-9","volume":"340","author":"S Lindstedt","year":"1992","unstructured":"Lindstedt S, Holme E, Lock EA et al (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340(8823):813\u2013817","journal-title":"Lancet"},{"issue":"12","key":"109_CR26","doi-asserted-by":"publisher","first-page":"2625","DOI":"10.1007\/s11064-013-1180-3","volume":"38","author":"LG Macedo","year":"2013","unstructured":"Macedo LG, Carvalho-Silva M, Ferreira GK et al (2013) Effect of acute administration of L-tyrosine on oxidative stress parameters in brain of young rats. Neurochem Res 38(12):2625\u20132630","journal-title":"Neurochem Res"},{"key":"109_CR27","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1007\/s10545-008-0793-1","volume":"31","author":"A Masurel-Paulet","year":"2008","unstructured":"Masurel-Paulet A, Poggi-Bach J, Rolland MO et al (2008) NTBC treatment in tyrosinaemia type I: long-term outcome in French patients. J Inherit Metab Dis 31:81\u201387","journal-title":"J Inherit Metab Dis"},{"key":"109_CR28","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1517\/21678707.2013.800807","volume":"1","author":"PJ McKiernan","year":"2013","unstructured":"McKiernan PJ (2013) Nitisinone for the treatment of hereditary tyrosinemia type I. Expert Opin Orphan Drugs 1:491\u2013497","journal-title":"Expert Opin Orphan Drugs"},{"key":"109_CR29","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1136\/archdischild-2014-306886","volume":"100","author":"PJ McKiernan","year":"2015","unstructured":"McKiernan PJ, Preece MA, Chakrapani A (2015) Outcome of children with hereditary tyrosinaemia following newborn screening. Arch Dis Child 100:738\u2013741","journal-title":"Arch Dis Child"},{"key":"109_CR30","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1177\/0004563217691065","volume":"54","author":"AM Milan","year":"2017","unstructured":"Milan AM, Hughes AT, Davison AS et al (2017) The effect of nitisinone on homogentisic acid and tyrosine: a two-year survey of patients attending the National Alkaptonuria Centre, Liverpool. Ann Clin Biochem 54:323\u2013330","journal-title":"Ann Clin Biochem"},{"key":"109_CR31","first-page":"76","volume":"12","author":"RA Milch","year":"1960","unstructured":"Milch RA (1960) Studies of alcaptonuria: inheritance of 47 cases in eight highly inter-related Dominican kindreds. Am J Hum Genet 12:76\u201385","journal-title":"Am J Hum Genet"},{"key":"109_CR32","first-page":"21","volume":"24","author":"B Olsson","year":"2015","unstructured":"Olsson B, Cox TF, Psarelli EE et al (2015) Relationship between serum concentrations of nitisinone and its effect on homogentisic acid and tyrosine in patients with alkaptonuria. J Inherit Metab Dis Rep 24:21\u201327","journal-title":"J Inherit Metab Dis Rep"},{"key":"109_CR33","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/0009-8981(69)90226-5","volume":"25","author":"T Perry","year":"1969","unstructured":"Perry T, Hansen S (1969) Technical pitfalls leading to errors in the quantitation of plasma amino acids. Clin Chim Acta 25:53\u201358","journal-title":"Clin Chim Acta"},{"key":"109_CR34","doi-asserted-by":"publisher","first-page":"2111","DOI":"10.1056\/NEJMoa021736","volume":"347","author":"C Phomphutkul","year":"2002","unstructured":"Phomphutkul C, Introne WJ, Perry MB et al (2002) Natural history of alkaptonuria. N Engl J Med 347:2111\u20132121","journal-title":"N Engl J Med"},{"key":"109_CR35","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1007\/s00726-002-0338-0","volume":"24","author":"HT Pitk\u00e4nen","year":"2003","unstructured":"Pitk\u00e4nen HT, Oja SS, Kemppainen K et al (2003) Serum amino acid concentrations in aging men and women. Amino Acids 24:413\u2013421","journal-title":"Amino Acids"},{"key":"109_CR36","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1136\/jclinpath-2012-200877","volume":"66","author":"LR Ranganath","year":"2013","unstructured":"Ranganath LR, Jarvis JC, Gallagher JA (2013) Recent advances in management of alkaptonuria. J Clin Pathol 66:367\u2013373","journal-title":"J Clin Pathol"},{"issue":"2","key":"109_CR37","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1136\/annrheumdis-2014-206033","volume":"75","author":"LR Ranganath","year":"2016","unstructured":"Ranganath LR, Milan AM, Hughes AT et al (2016) Suitability of nitisinone in alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment. Ann Rheum Dis 75(2):362\u2013367","journal-title":"Ann Rheum Dis"},{"key":"109_CR38","doi-asserted-by":"crossref","unstructured":"Ravaglia G, Forti P, Maioli F et al (2004) Plasma amino acid concentrations in patients with amnestic mild cognitive impairment or Alzheimer disease Am J Clin Nutr 2004;80:483\u2013488","DOI":"10.1093\/ajcn\/80.2.483"},{"key":"109_CR39","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1093\/ajcn\/49.3.559","volume":"49","author":"D Rudman","year":"1989","unstructured":"Rudman D, Mattson DE, Feller AG et al (1989) Fasting plasma amino acids in elderly men. Am J Clin Nutr 49:559\u2013566","journal-title":"Am J Clin Nutr"},{"key":"109_CR40","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1080\/07315724.1991.10718185","volume":"10","author":"G Sarwar","year":"1991","unstructured":"Sarwar G, Botting HG, Collins M (1991) A comparison of fasting serum amino acid profi les of young and elderly subjects. J Am Coll Nutr 10:668\u2013674","journal-title":"J Am Coll Nutr"},{"key":"109_CR41","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1016\/j.metabol.2004.12.017","volume":"54","author":"P Suwannarat","year":"2005","unstructured":"Suwannarat P, O\u2019Brien K, Perry MB et al (2005) Use of nitisinone in patients with alkaptonuria. Metab Clin Exp 54:719\u2013728","journal-title":"Metab Clin Exp"},{"key":"109_CR42","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1016\/j.ymgme.2010.11.003","volume":"102","author":"E Thimm","year":"2011","unstructured":"Thimm E, Herebian D, Assmann B et al (2011) Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I. Mol Genet Metab 102:122\u2013125","journal-title":"Mol Genet Metab"},{"key":"109_CR43","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1007\/s10545-011-9394-5","volume":"35","author":"E Thimm","year":"2012","unstructured":"Thimm E, Richter-Werkle R, Kamp G et al (2012) Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC. J Inherit Metab Dis 35:263\u2013268","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"109_CR44","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1186\/s13023-016-0472-5","volume":"11","author":"WG Ginkel van","year":"2016","unstructured":"van Ginkel WG, Jahja R, Huijbregts SC et al (2016) Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls. Orphanet J Rare Dis 11(1):87","journal-title":"Orphanet J Rare Dis"},{"key":"109_CR45","doi-asserted-by":"crossref","unstructured":"van Ginkel WG, Jahja R, Huijbregts SCJ (2017) Neurological and neuropsychological problems in tyrosinemia type I patients. Adv Exp Med Biol 959:111\u2013122. Chapter 10. ISBN 978-3-319-55779-3","DOI":"10.1007\/978-3-319-55780-9_10"},{"key":"109_CR46","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1007\/8904_2014_358","volume":"18","author":"D Vliet Van","year":"2014","unstructured":"Van Vliet D, Van Dam E, Van Rijn M et al (2014) Infants with tyrosinemia type 1: should phenylalanine be supplemented? JIMD Rep 18:117\u2013124","journal-title":"JIMD Rep"},{"issue":"7","key":"109_CR47","doi-asserted-by":"publisher","first-page":"40146","DOI":"10.1038\/srep40146","volume":"10","author":"L Wang","year":"2017","unstructured":"Wang L, Liu S, Yang W et al (2017) Plasma amino acid profile in patients with aortic dissection. Sci Rep 10(7):40146","journal-title":"Sci Rep"},{"issue":"9","key":"109_CR48","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1093\/ajcn\/29.9.997","volume":"29","author":"RW Wannemacher","year":"1976","unstructured":"Wannemacher RW, Klainer AS, Dinterman RE et al (1976) The significance and mechanism of an increased serum phenylalanine-tyrosine ratio during infection. Am J Clin Nutr 29(9):997\u20131006","journal-title":"Am J Clin Nutr"},{"key":"109_CR49","doi-asserted-by":"publisher","first-page":"1127","DOI":"10.1007\/s10545-011-9363-z","volume":"34","author":"A Zatkova","year":"2011","unstructured":"Zatkova A (2011) An update on molecular genetics of alkaptonuria (AKU). J Inherit Metab Dis 34:1127\u20131136","journal-title":"J Inherit Metab Dis"}],"container-title":["JIMD Reports","JIMD Reports, Volume 41"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2018_109","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,10]],"date-time":"2019-05-10T10:58:16Z","timestamp":1557485896000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2018_109"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"ISBN":["9783662580806","9783662580813"],"references-count":49,"URL":"https:\/\/doi.org\/10.1007\/8904_2018_109","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"type":"print","value":"2192-8304"},{"type":"electronic","value":"2192-8312"}],"subject":[],"published":{"date-parts":[[2018]]}}}