{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,6,16]],"date-time":"2022-06-16T16:33:26Z","timestamp":1655397206980},"reference-count":59,"publisher":"Spandidos Publications","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,5]]},"DOI":"10.3892\/etm.2017.4167","type":"journal-article","created":{"date-parts":[[2017,3,2]],"date-time":"2017-03-02T08:01:01Z","timestamp":1488441661000},"page":"1961-1968","source":"Crossref","is-referenced-by-count":1,"title":["Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine"],"prefix":"10.3892","volume":"13","author":[{"given":"Xiao-Qi","family":"Sheng","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Chao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2249","published-online":{"date-parts":[[2017,3,2]]},"reference":[{"key":"key20180108134424_b1-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/978-90-481-9485-8_23","article-title":"Inherited metabolic rare disease","volume":"686","author":"Pampols","year":"2010","journal-title":"Adv Exp Med Biol"},{"key":"key20180108134424_b2-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/s10545-010-9135-1","article-title":"Present and future of antisense therapy for splicing modulation in inherited metabolic disease","volume":"33","author":"P\u00e9rez","year":"2010","journal-title":"J Inherit Metab Dis"},{"key":"key20180108134424_b3-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"2546","DOI":"10.2174\/1568026611212220009","article-title":"Cofactors and metabolites as protein folding helpers in metabolic diseases","volume":"12","author":"Rodrigues","year":"2012","journal-title":"Curr Top Med Chem"},{"key":"key20180108134424_b4-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"2550","DOI":"10.2174\/138161211797247596","article-title":"Gene transfer for inborn errors of metabolism of the liver: The clinical perspective","volume":"17","author":"Cassiman","year":"2011","journal-title":"Curr Pharm Des"},{"key":"key20180108134424_b5-etm-0-0-4167","doi-asserted-by":"crossref","DOI":"10.1007\/978-3-642-40337-8","volume-title":"Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases","author":"Blau","year":"2014"},{"key":"key20180108134424_b6-etm-0-0-4167","first-page":"21","article-title":"Seven-year experience with inherited metabolic disorders screening by tandem mass spectrometry","volume":"5","author":"Song","year":"2008","journal-title":"J Genet Med"},{"key":"key20180108134424_b7-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"582","DOI":"10.5507\/bp.2014.048","article-title":"Untargeted metabolomic analysis of urine samples in the diagnosis of some inherited metabolic disorders","volume":"159","author":"Janeckova","year":"2015","journal-title":"Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub"},{"key":"key20180108134424_b8-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"8825","DOI":"10.1007\/s00216-015-9041-3","article-title":"A GC\/MS-based metabolomic approach for reliable diagnosis of phenylketonuria","volume":"407","author":"Xiong","year":"2015","journal-title":"Anal Bioanal Chem"},{"key":"key20180108134424_b9-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/S0378-4347(01)00138-4","article-title":"Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry","volume":"758","author":"Kuhara","year":"2001","journal-title":"J Chromatogr B Biomed Sci Appl"},{"key":"key20180108134424_b10-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/S1570-0232(02)00670-0","article-title":"Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry","volume":"781","author":"Kuhara","year":"2002","journal-title":"J Chromatogr B Analyt Technol Biomed Life Sci"},{"key":"key20180108134424_b11-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1023\/A:1015620609075","article-title":"Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples","volume":"25","author":"Kuhara","year":"2002","journal-title":"J Inherit Metab Dis"},{"key":"key20180108134424_b12-etm-0-0-4167","first-page":"93","article-title":"Diagnostics of some inherited metabolic disorders by mass spectrometry using modern ionisation techniques","volume":"97","author":"Fry\u010d\u00e1k","year":"2003","journal-title":"Chemicke Listy"},{"key":"key20180108134424_b13-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.chroma.2013.03.072","article-title":"Stable isotope coded derivatizing reagents as internal standards in metabolite profiling","volume":"1296","author":"Bruheim","year":"2013","journal-title":"J Chromatogr A"},{"key":"key20180108134424_b14-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"e73076","DOI":"10.1371\/journal.pone.0073076","article-title":"The human urine metabolome","volume":"8","author":"Bouatra","year":"2013","journal-title":"PLoS One"},{"key":"key20180108134424_b15-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.chroma.2011.09.074","article-title":"Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders","volume":"1226","author":"Jane\u010dkov\u00e1","year":"2012","journal-title":"J Chromatogr A"},{"key":"key20180108134424_b16-etm-0-0-4167","first-page":"3247","article-title":"Evaluation of automated sample preparation, retention time locked GC-MS and automated data analysis for the metabolomic study of Arabidopsis species","volume":"1218","author":"Qun","year":"2010","journal-title":"J Chromatogr A"},{"key":"key20180108134424_b17-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"6634","DOI":"10.1158\/1078-0432.CCR-11-1105","article-title":"Adaptive clinical trial designs for simultaneous testing of matched diagnostics and therapeutics","volume":"17","author":"Scher","year":"2011","journal-title":"Clin Cancer Res"},{"key":"key20180108134424_b18-etm-0-0-4167","first-page":"81","article-title":"Simultaneous multi-analyte urinary protein assay for bladder cancer detection","volume":"14","author":"Rosser","year":"2013","journal-title":"BMC Biotechnol"},{"key":"key20180108134424_b19-etm-0-0-4167","article-title":"A two-step derivatization on simultaneous analysis for organic acids, fatty acids, amino acid, carbohydrates, pyrimidines, and purines in complicated organic compounds","author":"Wang","journal-title":"CN patent ZL201210114246.2"},{"key":"key20180108134424_b20-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"9485412","DOI":"10.1155\/2016\/9485412","article-title":"Urinary 3-(3-hydroxyphenyl)-3-hydroxypropionic acid, 3-hydroxyphenylacetic acid, and 3-hydroxyhippuric acid are elevated in children with autism spectrum disorders","volume":"2016","author":"Xiong","year":"2016","journal-title":"Biomed Research International"},{"key":"key20180108134424_b21-etm-0-0-4167","volume-title":"Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases","author":"Blau","year":"1996","edition":"2nd"},{"key":"key20180108134424_b22-etm-0-0-4167","first-page":"1","article-title":"Urinary 3-(3-hydroxyphenyl)-3-hydroxypropionic acid, 3-hydroxyphenylacetic acid, and 3-hydroxyhippuric acid are elevated in children with autism spectrum disorders","volume":"2016","author":"Xiong","year":"2016","journal-title":"BioMed Res Int"},{"key":"key20180108134424_b23-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1038\/ejhg.2013.175","article-title":"Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing","volume":"22","author":"Trujillano","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"key20180108134424_b24-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.ymgmr.2015.01.001","article-title":"Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran","volume":"2","author":"Setoodeh","year":"2015","journal-title":"Mol Genet Metab Rep"},{"key":"key20180108134424_b25-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1038\/jhg.2011.10","article-title":"Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan","volume":"56","author":"Okano","year":"2011","journal-title":"J Hum Genet"},{"key":"key20180108134424_b26-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.ymgme.2013.01.006","article-title":"Histopathological findings in livers of patients with urea cycle disorders","volume":"108","author":"Yaplito-Lee","year":"2013","journal-title":"Mol Genet Metab"},{"key":"key20180108134424_b27-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/j.ymgme.2013.04.013","article-title":"Characteristics of NO cycle coupling with urea cycle in non-hyperammonemic carriers of ornithine transcarbamylase deficiency","volume":"109","author":"Nagasaka","year":"2013","journal-title":"Mol Genet Metab"},{"key":"key20180108134424_b28-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1111\/ajt.12146","article-title":"A novel mutation of the ornithine transcarbamylase gene leading to fatal hyperammonemia in a liver transplant recipient","volume":"13","author":"Mukhtar","year":"2013","journal-title":"Am J Transplant"},{"key":"key20180108134424_b29-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1111\/j.1365-2990.2012.01262.x","article-title":"Antenatal neurodevelopmental defects in ornithine transcarbamylase deficiency","volume":"38","author":"Paine","year":"2012","journal-title":"Neuropathol Appl Neurobiol"},{"key":"key20180108134424_b30-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1097\/PEC.0b013e31822c25c9","article-title":"Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood","volume":"27","author":"Mhanni","year":"2011","journal-title":"Pediatr Emerg Care"},{"key":"key20180108134424_b31-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/s10545-006-0489-3","article-title":"An OTC deficiency \u2018phenocopy\u2019 in association with Klinefelter syndrome","volume":"30","author":"Swarts","year":"2007","journal-title":"J Inherit Metab Dis"},{"key":"key20180108134424_b32-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.ymgme.2011.10.020","article-title":"Preclinical evaluation of a clinical candidate AAV8 vector for Ornithine Transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome","volume":"105","author":"Wang","year":"2012","journal-title":"Mol Genet Metab"},{"key":"key20180108134424_b33-etm-0-0-4167","first-page":"357","article-title":"Molecular diagnosis of urea cycle disorders: Current global scenario","volume":"50","author":"Vaidyanathan","year":"2013","journal-title":"Indian J Biochem Biophys"},{"key":"key20180108134424_b34-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/9667","article-title":"The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein","volume":"22","author":"Kobayashi","year":"1999","journal-title":"Nat Genet"},{"key":"key20180108134424_b35-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"7098","DOI":"10.1074\/jbc.M610491200","article-title":"Ca2+ Activation kinetics of the two aspartate-glutamate mitochondrial carriers, aralar and citrin: Role in the heart malate-aspartate NADH shuttle","volume":"282","author":"Contreras","year":"2007","journal-title":"J Biol Chem"},{"key":"key20180108134424_b36-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"25041","DOI":"10.1074\/jbc.M702031200","article-title":"Citrin\/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency","volume":"282","author":"Saheki","year":"2007","journal-title":"J Biol Chem"},{"key":"key20180108134424_b37-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1016\/j.dld.2008.11.014","article-title":"Neonatal intrahepatic cholestasis caused by citrin deficiency: Clinical and laboratory investigation of 13 subjects in mainland of China","volume":"41","author":"Song","year":"2009","journal-title":"Dig Liver Dis"},{"key":"key20180108134424_b38-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1002\/humu.10022","article-title":"Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations","volume":"19","author":"Yamaguchi","year":"2002","journal-title":"Hum Mutat"},{"key":"key20180108134424_b39-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"7331","DOI":"10.3748\/wjg.v21.i23.7331","article-title":"Citrin deficiency presenting as acute liver failure in an eight-month-old infant","volume":"21","author":"Zhang","year":"2015","journal-title":"World J Gastroenterol"},{"key":"key20180108134424_b40-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1471-2350-14-24","article-title":"Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests","volume":"14","author":"Wang","year":"2013","journal-title":"BMC Med Genet"},{"key":"key20180108134424_b41-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"253","DOI":"10.2350\/09-01-0586.1","article-title":"Genetic disorders of surfactant dysfunction","volume":"12","author":"Wert","year":"2009","journal-title":"Pediatr Dev Pathol"},{"key":"key20180108134424_b42-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1159\/000366074","article-title":"Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings","volume":"5","author":"Chen","year":"2014","journal-title":"Mol Syndromol"},{"key":"key20180108134424_b43-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/8904_2012_139","article-title":"Dihydropyrimidinase deficiency: The first feline case of dihydropyrimidinuria with clinical and molecular findings","volume":"6","author":"Chang","year":"2012","journal-title":"JIMD Rep"},{"key":"key20180108134424_b44-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"923","DOI":"10.2174\/156802611795347645","article-title":"Neurological disorders of purine and pyrimidine metabolism","volume":"11","author":"Micheli","year":"2011","journal-title":"Curr Top Med Chem"},{"key":"key20180108134424_b45-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1016\/j.cca.2010.02.072","article-title":"Increase in urinary purines and pyrimidines in patients with methylmalonic aciduria combined with homocystinuria","volume":"411","author":"Porcu","year":"2010","journal-title":"Clin Chim Acta"},{"key":"key20180108134424_b46-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1007\/s10545-014-9682-y","article-title":"Clinical, biochemical and molecular analysis of 13 Japanese patients with \u03b2-ureidopropionase deficiency demonstrates high prevalence of the c.977G>A (p.R326Q) mutation","volume":"37","author":"Nakajima","year":"2014","journal-title":"J Inherit Metab Dis"},{"key":"key20180108134424_b47-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/s10545-009-1094-z","article-title":"Inborn errors of purine and pyrimidine metabolism","volume":"32","author":"Jurecka","year":"2009","journal-title":"J Inherit Metab Dis"},{"key":"key20180108134424_b48-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1007\/s10545-014-9742-3","article-title":"Inborn errors of pyrimidine metabolism: clinical update and therapy","volume":"37","author":"Balasubramaniam","year":"2014","journal-title":"J Inherit Metab Dis"},{"key":"key20180108134424_b49-etm-0-0-4167","first-page":"221","article-title":"The genetics of Leigh syndrome and its implications for clinical practice and risk management","volume":"7","author":"Ruhoy","year":"2014","journal-title":"Appl Clin Genet"},{"key":"key20180108134424_b50-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.ymgme.2012.11.002","article-title":"Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene","volume":"108","author":"Honzik","year":"2013","journal-title":"Mol Genet Metab"},{"key":"key20180108134424_b51-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1042\/BJ20141462","article-title":"Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation","volume":"466","author":"Hejzlarov\u00e1","year":"2015","journal-title":"Biochem J"},{"key":"key20180108134424_b52-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1136\/jmg.40.3.188","article-title":"The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency","volume":"40","author":"Chol","year":"2003","journal-title":"J Med Genet"},{"key":"key20180108134424_b53-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/j.ymgme.2012.06.013","article-title":"Whole mitochondrial genome analysis of a family with NARP\/MILS caused by m.8993T>C mutation in the MT-ATP6 gene","volume":"107","author":"Kara","year":"2012","journal-title":"Mol Genet Metab"},{"key":"key20180108134424_b54-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"506","DOI":"10.4088\/JCP.11r07237","article-title":"The psychiatric manifestations of mitochondrial disorders: A case and review of the literature","volume":"73","author":"Anglin","year":"2012","journal-title":"J Clin Psychiatry"},{"key":"key20180108134424_b55-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1097\/QAD.0b013e32833f9d02","article-title":"European mitochondrial DNA haplogroups and metabolic changes during antiretroviral therapy in AIDS Clinical Trials Group Study A5142","volume":"25","author":"Hulgan","year":"2011","journal-title":"AIDS"},{"key":"key20180108134424_b56-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"1326","DOI":"10.1101\/gad.191056.112","article-title":"Inhibition of \u03b1-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors","volume":"29","author":"Xiao","year":"2012","journal-title":"Genes Dev"},{"key":"key20180108134424_b57-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"3282","DOI":"10.1128\/MCB.01927-06","article-title":"Cell-permeating \u03b1-ketoglutarate derivatives alleviate pseudohypoxia in succinate dehydrogenase-deficient cells","volume":"27","author":"MacKenzie","year":"2007","journal-title":"Mol Cell Biol"},{"key":"key20180108134424_b58-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"14615","DOI":"10.1074\/jbc.C112.353946","article-title":"Cancer-associated isocitrate dehydrogenase mutations inactivate NADPH-dependent reductive carboxylation","volume":"287","author":"Leonardi","year":"2012","journal-title":"J Biol Chem"},{"key":"key20180108134424_b59-etm-0-0-4167","doi-asserted-by":"crossref","first-page":"e1000662","DOI":"10.1371\/journal.ppat.1000662","article-title":"An anaerobic-type alpha-ketoglutarate ferredoxin oxidoreductase completes the oxidative tricarboxylic acid cycle of Mycobacterium tuberculosis","volume":"5","author":"Baughn","year":"2009","journal-title":"PLoS Pathog"}],"container-title":["Experimental and Therapeutic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/spandidos-publications.com\/10.3892\/etm.2017.4167\/download","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,19]],"date-time":"2019-09-19T07:02:38Z","timestamp":1568876558000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.spandidos-publications.com\/10.3892\/etm.2017.4167"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,2]]},"references-count":59,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2017,3,2]]},"published-print":{"date-parts":[[2017,5]]}},"alternative-id":["10.3892\/etm.2017.4167"],"URL":"https:\/\/doi.org\/10.3892\/etm.2017.4167","relation":{},"ISSN":["1792-0981","1792-1015"],"issn-type":[{"value":"1792-0981","type":"print"},{"value":"1792-1015","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,2]]}}}