{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T09:29:55Z","timestamp":1792056595062,"version":"4.4.0"},"reference-count":184,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2012,11,1]],"date-time":"2012-11-01T00:00:00Z","timestamp":1351728000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,11,1]],"date-time":"2012-11-01T00:00:00Z","timestamp":1351728000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","metabolismjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Metabolism"],"published-print":{"date-parts":[[2012,11]]},"DOI":"10.1016\/j.metabol.2012.07.007","type":"journal-article","created":{"date-parts":[[2012,8,23]],"date-time":"2012-08-23T21:17:23Z","timestamp":1345756643000},"page":"1495-1511","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":268,"title":["Ammonium metabolism in humans"],"prefix":"10.1016","volume":"61","author":[{"given":"Maria M.","family":"Adeva","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gema","family":"Souto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Blanco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Crist\u00f3bal","family":"Donapetry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.metabol.2012.07.007_bb0005","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1139\/y92-020","article-title":"Ammonia and amino acid metabolism in human skeletal muscle during exercise","volume":"70","author":"Graham","year":"1992","journal-title":"Can J Physiol Pharmacol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0010","series-title":"Textbook of biochemistry with clinical correlations","first-page":"743","article-title":"Amino acid metabolism","author":"Coomes","year":"2006"},{"key":"10.1016\/j.metabol.2012.07.007_bb0015","first-page":"9","article-title":"The origin and fate of salivary urea and ammonia in man","volume":"52","author":"Kopstein","year":"1977","journal-title":"Clin Sci Mol Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0020","first-page":"631","article-title":"Gastrointestinal urease in man","volume":"7","author":"Aoyagi","year":"1966","journal-title":"I. Activity of mucosal urease. Gut"},{"key":"10.1016\/j.metabol.2012.07.007_bb0025","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1099\/jmm.0.47768-0","article-title":"Urease-positive bacteria in the stomach induce a false-positive reaction in a urea breath test for diagnosis of Helicobacter pylori infection","volume":"57","author":"Osaki","year":"2008","journal-title":"J Med Microbiol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0030","doi-asserted-by":"crossref","first-page":"e78","DOI":"10.1016\/j.ejim.2007.10.022","article-title":"Hyperammonemic encephalopathy caused by urinary tract infection with urinary retention","volume":"19","author":"Sato","year":"2008","journal-title":"Eur J Intern Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0035","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1681\/ASN.V541066","article-title":"Unexpected encephalopathy in chronic renal failure: hyperammonemia complicating acute peritonitis","volume":"5","author":"Pimentel","year":"1994","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0040","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1006\/geno.1996.0645","article-title":"Localization of the L-glutamine synthetase gene to chromosome 1q23","volume":"38","author":"Clancy","year":"1996","journal-title":"Genomics"},{"key":"10.1016\/j.metabol.2012.07.007_bb0045","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1002\/humu.20813","article-title":"Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases","volume":"30","author":"Mitchell","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.metabol.2012.07.007_bb0050","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.2116\/analsci.21.1471","article-title":"Identification of ammonia in gas emanated from human skin and its correlation with that in blood","volume":"21","author":"Nose","year":"2005","journal-title":"Anal Sci"},{"key":"10.1016\/j.metabol.2012.07.007_bb0055","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1164\/ajrccm.165.1.2104131","article-title":"Expression and activity of pH-regulatory glutaminase in the human airway epithelium","volume":"165","author":"Hunt","year":"2002","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0060","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1152\/physiolgenomics.1999.1.2.51","article-title":"Cloning and analysis of unique human glutaminase isoforms generated by tissue-specific alternative splicing","volume":"1","author":"Elgadi","year":"1999","journal-title":"Physiol Genomics"},{"key":"10.1016\/j.metabol.2012.07.007_bb0065","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1159\/000273582","article-title":"Glutamate dehydrogenase activity in leukocytes and ageing","volume":"7","author":"Kravos","year":"2010","journal-title":"Neurodegener Dis"},{"key":"10.1016\/j.metabol.2012.07.007_bb0070","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1006\/geno.1996.0542","article-title":"Chromosomal mapping of a family of human glutamine synthetase genes: functional gene (GLUL) on 1q25, pseudogene (GLULP) on 9p13, and three related genes (GLULL1, GLULL2, GLULL3) on 5q33, 11p15, and 11q24","volume":"37","author":"Wang","year":"1996","journal-title":"Genomics"},{"key":"10.1016\/j.metabol.2012.07.007_bb0075","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1042\/cs0940313","article-title":"Distribution of glutaminase and glutamine synthetase activities in the human gastrointestinal tract","volume":"94","author":"James","year":"1998","journal-title":"Clin Sci (Lond)"},{"key":"10.1016\/j.metabol.2012.07.007_bb0080","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1111\/j.1471-4159.1987.tb02906.x","article-title":"Glutamine synthetase of the human brain: purification and characterization","volume":"49","author":"Yamamoto","year":"1987","journal-title":"J Neurochem"},{"key":"10.1016\/j.metabol.2012.07.007_bb0085","doi-asserted-by":"crossref","first-page":"e4416","DOI":"10.1371\/journal.pone.0004416","article-title":"Keratinocytes as depository of ammonium-inducible glutamine synthetase: age- and anatomy-dependent distribution in human and rat skin","volume":"4","author":"Danielyan","year":"2009","journal-title":"PLoS One"},{"key":"10.1016\/j.metabol.2012.07.007_bb0090","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1016\/j.bone.2008.04.016","article-title":"Wnt and steroid pathways control glutamate signalling by regulating glutamine synthetase activity in osteoblastic cells","volume":"43","author":"Olkku","year":"2008","journal-title":"Bone"},{"key":"10.1016\/j.metabol.2012.07.007_bb0095","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.abb.2008.07.009","article-title":"Glutamine synthetase is essential for proliferation of fetal skin fibroblasts","volume":"478","author":"Vermeulen","year":"2008","journal-title":"Arch Biochem Biophys"},{"key":"10.1016\/j.metabol.2012.07.007_bb0100","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/0143-4004(77)90008-X","article-title":"Characterization of glutamine synthetase transcript, protein, and enzyme activity in the human placenta","volume":"18","author":"DeMarco","year":"1997","journal-title":"Placenta"},{"key":"10.1016\/j.metabol.2012.07.007_bb0105","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1042\/cs0640517","article-title":"Effects of ingested steak and infused leucine on forelimb metabolism in man and the fate of the carbon skeletons and amino groups of branched-chain amino acids","volume":"64","author":"Elia","year":"1983","journal-title":"Clin Sci (Lond)"},{"key":"10.1016\/j.metabol.2012.07.007_bb0110","doi-asserted-by":"crossref","first-page":"1522","DOI":"10.1172\/JCI110406","article-title":"Leucine meal increases glutamine and total nitrogen release from forearm muscle","volume":"68","author":"Aoki","year":"1981","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0115","first-page":"E326","article-title":"Role of leucine as a precursor of glutamine alpha-amino nitrogen in vivo in humans","volume":"260","author":"Darmaun","year":"1991","journal-title":"Am J Physiol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0120","first-page":"E407","article-title":"Removal of infused amino acids by splanchnic and leg tissues in humans","volume":"250","author":"Gelfand","year":"1986","journal-title":"Am J Physiol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0125","doi-asserted-by":"crossref","first-page":"1926","DOI":"10.1056\/NEJMoa050456","article-title":"Congenital glutamine deficiency with glutamine synthetase mutations","volume":"353","author":"Haberle","year":"2005","journal-title":"N Engl J Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0130","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.ymgme.2011.02.001","article-title":"Natural course of glutamine synthetase deficiency in a 3 year old patient","volume":"103","author":"Haberle","year":"2011","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.metabol.2012.07.007_bb0135","doi-asserted-by":"crossref","first-page":"446","DOI":"10.7326\/0003-4819-127-6-199709150-00005","article-title":"Hepatic glutamine synthetase deficiency in fatal hyperammonemia after lung transplantation","volume":"127","author":"Tuchman","year":"1997","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0140","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.tox.2011.01.006","article-title":"Differential expression of glutamine synthetase and cytochrome P450 isoforms in human hepatoblastoma","volume":"281","author":"Schmidt","year":"2011","journal-title":"Toxicology"},{"key":"10.1016\/j.metabol.2012.07.007_bb0145","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1097\/00000658-199410000-00001","article-title":"Modulation of cellular proliferation alters glutamine transport and metabolism in human hepatoma cells","volume":"220","author":"Bode","year":"1994","journal-title":"Ann Surg"},{"key":"10.1016\/j.metabol.2012.07.007_bb0150","doi-asserted-by":"crossref","first-page":"10764","DOI":"10.1021\/bi201613d","article-title":"Full-length human glutaminase in complex with an allosteric inhibitor","volume":"50","author":"DeLaBarre","year":"2011","journal-title":"Biochemistry"},{"key":"10.1016\/j.metabol.2012.07.007_bb0155","unstructured":"Human glutaminase-2 gene. Assessed at http:\/\/www.ncbi.nlm.nih.gov\/gene?term=(gls2) on 8 December 2011."},{"key":"10.1016\/j.metabol.2012.07.007_bb0160","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1006\/jsre.1994.1136","article-title":"Glucocorticoids regulate glutaminase gene expression in human intestinal epithelial cells","volume":"57","author":"Sarantos","year":"1994","journal-title":"J Surg Res"},{"key":"10.1016\/j.metabol.2012.07.007_bb0165","doi-asserted-by":"crossref","first-page":"7455","DOI":"10.1073\/pnas.1001006107","article-title":"Glutaminase 2, a novel p53 target gene regulating energy metabolism and antioxidant function","volume":"107","author":"Hu","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.metabol.2012.07.007_bb0170","doi-asserted-by":"crossref","first-page":"7461","DOI":"10.1073\/pnas.1002459107","article-title":"Phosphate-activated glutaminase (GLS2), a p53-inducible regulator of glutamine metabolism and reactive oxygen species","volume":"107","author":"Suzuki","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.metabol.2012.07.007_bb0175","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1038\/nature07823","article-title":"c-Myc suppression of miR-23a\/b enhances mitochondrial glutaminase expression and glutamine metabolism","volume":"458","author":"Gao","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.metabol.2012.07.007_bb0180","first-page":"600","article-title":"Incidence and management of asparaginase-associated adverse events in patients with acute lymphoblastic leukemia","volume":"7","author":"Earl","year":"2009","journal-title":"Clin Adv Hematol Oncol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0185","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/S0140-6736(86)92304-4","article-title":"Acute encephalopathy and hyperammonaemia complicating treatment of acute lymphoblastic leukaemia with asparaginase","volume":"1","author":"Leonard","year":"1986","journal-title":"Lance"},{"key":"10.1016\/j.metabol.2012.07.007_bb0190","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1002\/jnr.10054","article-title":"Regulation of human glutamate dehydrogenases: implications for glutamate, ammonia and energy metabolism in brain","volume":"66","author":"Plaitakis","year":"2001","journal-title":"J Neurosci Res"},{"key":"10.1016\/j.metabol.2012.07.007_bb0195","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1056\/NEJM199805073381904","article-title":"Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene","volume":"338","author":"Stanley","year":"1998","journal-title":"N Engl J Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0200","doi-asserted-by":"crossref","first-page":"16748","DOI":"10.1074\/jbc.M109.092999","article-title":"Human GLUD2 glutamate dehydrogenase is expressed in neural and testicular supporting cells","volume":"285","author":"Spanaki","year":"2010","journal-title":"J Biol Chem"},{"key":"10.1016\/j.metabol.2012.07.007_bb0205","doi-asserted-by":"crossref","first-page":"31380","DOI":"10.1074\/jbc.M110.146084","article-title":"Estrogen modification of human glutamate dehydrogenases is linked to enzyme activation state","volume":"285","author":"Borompokas","year":"2010","journal-title":"J Biol Chem"},{"key":"10.1016\/j.metabol.2012.07.007_bb0210","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1093\/clinchem\/31.2.239","article-title":"Mitochondrial enzymes in human serum: comparative determinations of glutamate dehydrogenase and mitochondrial aspartate aminotransferase in healthy persons and patients with chronic liver diseases","volume":"31","author":"Jung","year":"1985","journal-title":"Clin Chem"},{"key":"10.1016\/j.metabol.2012.07.007_bb0215","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1136\/jcp.35.2.207","article-title":"Serum glutamate dehydrogenase is not a reliable marker of liver cell necrosis in alcoholics","volume":"35","author":"Jenkins","year":"1982","journal-title":"J Clin Pathol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0220","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1093\/alcalc\/agn010","article-title":"Kinetics and isoforms of serum glutamate dehydrogenase in alcoholics","volume":"43","author":"Kravos","year":"2008","journal-title":"Alcohol Alcohol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0225","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1002\/ana.410150206","article-title":"Neurological disorders associated with deficiency of glutamate dehydrogenase","volume":"15","author":"Plaitakis","year":"1984","journal-title":"Ann Neurol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0230","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1111\/j.1365-2362.1988.tb01053.x","article-title":"Ammonia and glutamine metabolism in human liver slices: new aspects on the pathogenesis of hyperammonaemia in chronic liver disease","volume":"18","author":"Kaiser","year":"1988","journal-title":"Eur J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0235","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/S0006-291X(02)02696-7","article-title":"Cloning and expression of the human N-acetylglutamate synthase gene","volume":"299","author":"Caldovic","year":"2002","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.metabol.2012.07.007_bb0240","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1002\/ana.10406","article-title":"N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy","volume":"52","author":"Elpeleg","year":"2002","journal-title":"Ann Neurol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0245","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.ymgme.2005.10.003","article-title":"Biochemical properties of recombinant human and mouse N-acetylglutamate synthase","volume":"87","author":"Caldovic","year":"2006","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.metabol.2012.07.007_bb0250","doi-asserted-by":"crossref","first-page":"22055","DOI":"10.1074\/jbc.M110.209023","article-title":"Down-regulation of hepatic urea synthesis by oxypurines: xanthine and uric acid inhibit N-acetylglutamate synthase","volume":"286","author":"Nissim","year":"2011","journal-title":"J Biol Chem"},{"key":"10.1016\/j.metabol.2012.07.007_bb0255","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1007\/s10545-007-0594-y","article-title":"Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency","volume":"30","author":"Hwu","year":"2007","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.metabol.2012.07.007_bb0260","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1002\/humu.20518","article-title":"Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene","volume":"28","author":"Caldovic","year":"2007","journal-title":"Hum Mutat"},{"key":"10.1016\/j.metabol.2012.07.007_bb0265","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/ajmg.a.30105","article-title":"Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency)","volume":"128A","author":"Loscalzo","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.metabol.2012.07.007_bb0270","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1002\/humu.21406","article-title":"Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations","volume":"32","author":"Haberle","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1016\/j.metabol.2012.07.007_bb0275","first-page":"28","article-title":"Molecular cloning, identification and characteristics of a novel isoform of carbamyl phosphate synthetase I in human testis","volume":"38","author":"Huo","year":"2005","journal-title":"J Biochem Mol Biol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0280","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1007\/s11427-010-4115-0","article-title":"Antigenically dominant proteins within the human liver mitochondrial proteome identified by monoclonal antibodies","volume":"54","author":"Ju","year":"2011","journal-title":"Sci China Life Sci"},{"key":"10.1016\/j.metabol.2012.07.007_bb0285","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1309\/AJCP74XGRFWTFLJU","article-title":"Loss of carbamoyl phosphate synthetase I in small-intestinal adenocarcinoma","volume":"132","author":"Cardona","year":"2009","journal-title":"Am J Clin Pathol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0290","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/s10545-005-0084-z","article-title":"A case of hyperinsulinism\/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemia","volume":"28","author":"Ihara","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.metabol.2012.07.007_bb0295","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/S1090-3798(03)00040-0","article-title":"Ornithine transcarbamylase deficiency: a urea cycle defect","volume":"7","author":"Gordon","year":"2003","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0300","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1001\/archneur.64.12.1777","article-title":"Fatal initial adult-onset presentation of urea cycle defect","volume":"64","author":"Lien","year":"2007","journal-title":"Arch Neurol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0305","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1002\/humu.20847","article-title":"Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene","volume":"30","author":"Engel","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.metabol.2012.07.007_bb0310","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":"10.1016\/j.metabol.2012.07.007_bb0315","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/0888-7543(91)90492-W","article-title":"Characterization of the human argininosuccinate lyase gene and analysis of exon skipping","volume":"10","author":"Abramson","year":"1991","journal-title":"Genomics"},{"key":"10.1016\/j.metabol.2012.07.007_bb0320","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1111\/j.1651-2227.2008.00923.x","article-title":"Hereditary urea cycle diseases in Finland","volume":"97","author":"Keskinen","year":"2008","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.metabol.2012.07.007_bb0325","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/ajmg.c.30289","article-title":"Argininosuccinate lyase deficiency\u2014argininosuccinic aciduria and beyond","volume":"157","author":"Erez","year":"2011","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"Suppl 1","key":"10.1016\/j.metabol.2012.07.007_bb0330","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1023\/A:1005313809037","article-title":"The human arginases and arginase deficiency","volume":"21","author":"Iyer","year":"1998","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.metabol.2012.07.007_bb0335","first-page":"350","article-title":"Human hyperargininemia: a mutation not expressed in skin fibroblasts?","volume":"29","author":"Van Elsen","year":"1977","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.metabol.2012.07.007_bb0340","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1203\/00006450-198312000-00003","article-title":"Immunologic studies of arginase in tissues of normal human adult and arginase-deficient patients","volume":"17","author":"Spector","year":"1983","journal-title":"Pediatr Res"},{"key":"10.1016\/j.metabol.2012.07.007_bb0345","doi-asserted-by":"crossref","first-page":"2549","DOI":"10.1182\/blood-2004-07-2521","article-title":"Arginase I is constitutively expressed in human granulocytes and participates in fungicidal activity","volume":"105","author":"Munder","year":"2005","journal-title":"Blood"},{"key":"10.1016\/j.metabol.2012.07.007_bb0350","first-page":"186","article-title":"The gene for human liver arginase (ARG1) is assigned to chromosome band 6q23","volume":"39","author":"Sparkes","year":"1986","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.metabol.2012.07.007_bb0355","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00230212","article-title":"Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme","volume":"91","author":"Grody","year":"1993","journal-title":"Hum Genet"},{"key":"10.1016\/j.metabol.2012.07.007_bb0360","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1177\/088307389701200502","article-title":"Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review","volume":"12","author":"Prasad","year":"1997","journal-title":"J Child Neurol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0365","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.pediatrneurol.2010.11.003","article-title":"Argininemia presenting with progressive spastic diplegia","volume":"44","author":"Lee","year":"2011","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0370","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.ymgme.2008.05.004","article-title":"Cross-sectional multicenter study of patients with urea cycle disorders in the United States","volume":"94","author":"Tuchman","year":"2008","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.metabol.2012.07.007_bb0375","doi-asserted-by":"crossref","first-page":"e31048","DOI":"10.1371\/journal.pone.0031048","article-title":"Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1","volume":"7","author":"Wang","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.metabol.2012.07.007_bb0380","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1016\/j.jhep.2008.05.016","article-title":"Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease","volume":"49","author":"Komatsu","year":"2008","journal-title":"J Hepatol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0385","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1016\/S0929-6646(09)60274-6","article-title":"Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma","volume":"105","author":"Tsai","year":"2006","journal-title":"J Formos Med Assoc"},{"key":"10.1016\/j.metabol.2012.07.007_bb0390","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.ymgme.2011.03.013","article-title":"SLC25A13 gene mutations in Taiwanese patients with non-viral hepatocellular carcinoma","volume":"103","author":"Chang","year":"2011","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.metabol.2012.07.007_bb0395","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.ymgme.2006.09.009","article-title":"Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes","volume":"90","author":"Tokuhara","year":"2007","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.metabol.2012.07.007_bb0400","doi-asserted-by":"crossref","first-page":"1881","DOI":"10.1007\/s00216-011-4766-0","article-title":"A GC\/MS-based metabolomic approach for diagnosing citrin deficiency","volume":"400","author":"Kuhara","year":"2011","journal-title":"Anal Bioanal Chem"},{"key":"10.1016\/j.metabol.2012.07.007_bb0405","doi-asserted-by":"crossref","first-page":"G760","DOI":"10.1152\/ajpgi.00333.2007","article-title":"The gut does not contribute to systemic ammonia release in humans without portosystemic shunting","volume":"295","author":"van de Poll","year":"2008","journal-title":"Am J Physiol Gastrointest Liver Physiol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0410","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1097\/00000658-199701000-00013","article-title":"Glutamine extraction by the gut is reduced in depleted [corrected] patients with gastrointestinal cancer","volume":"225","author":"van der Hulst","year":"1997","journal-title":"Ann Surg"},{"issue":"Pt 2","key":"10.1016\/j.metabol.2012.07.007_bb0415","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1177\/000456328502200202","article-title":"Composition of human hepatic bile","volume":"22","author":"Albers","year":"1985","journal-title":"Ann Clin Biochem"},{"key":"10.1016\/j.metabol.2012.07.007_bb0420","doi-asserted-by":"crossref","first-page":"G956","DOI":"10.1152\/ajpgi.00366.2006","article-title":"Effect of major liver resection on hepatic ureagenesis in humans","volume":"293","author":"van de Poll","year":"2007","journal-title":"Am J Physiol Gastrointest Liver Physiol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0425","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1172\/JCI104247","article-title":"The effect of induced hyperammonemia on renal ammonia metabolism","volume":"40","author":"Owen","year":"1961","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0430","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1172\/JCI104566","article-title":"The effect of acute alkalosis on renal metabolism of ammonia in cirrhotics","volume":"41","author":"Owen","year":"1962","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0435","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1172\/JCI104713","article-title":"Amino acid extraction and ammonia metabolism by the human kidney during the prolonged administration of ammonium chloride","volume":"42","author":"Owen","year":"1963","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0440","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1172\/JCI109771","article-title":"Renal metabolism of amino acids and ammonia in subjects with normal renal function and in patients with chronic renal insufficiency","volume":"65","author":"Tizianello","year":"1980","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0445","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1172\/JCI110436","article-title":"Renal ammoniagenesis in an early stage of metabolic acidosis in man","volume":"69","author":"Tizianello","year":"1982","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0450","doi-asserted-by":"crossref","first-page":"1615","DOI":"10.1172\/JCI103754","article-title":"Ammonia excretion and renal enzymatic adaptation in human subjects, as disclosed by administration of precursor amino acids","volume":"37","author":"Madison","year":"1958","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0455","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1172\/JCI103111","article-title":"The cerebral and peripheral uptake of ammonia in liver disease with an hypothesis for the mechanism of hepatic coma","volume":"34","author":"Bessman","year":"1955","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0460","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1172\/JCI103621","article-title":"Ammonium uptake by the extremities and brain in hepatic coma","volume":"37","author":"Webster","year":"1958","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0465","first-page":"592","article-title":"Peripheral biochemical changes associated with the intravenous administration of ammonium salts in normal subjects","volume":"51","author":"Tyor","year":"1958","journal-title":"J Lab Clin Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0470","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/0026-0495(76)90075-5","article-title":"Muscle nitrogen metabolism in chronic hepatic insufficiency","volume":"25","author":"Ganda","year":"1976","journal-title":"Metabolism"},{"key":"10.1016\/j.metabol.2012.07.007_bb0475","first-page":"133","article-title":"Observations on the effect of exercise on blood ammonia concentration in man","volume":"33","author":"Allen","year":"1960","journal-title":"Yale J Biol Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0480","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1136\/jcp.23.8.715","article-title":"The effect of exercise on the venous blood ammonium concentration in man","volume":"23","author":"Sinniah","year":"1970","journal-title":"J Clin Pathol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0485","doi-asserted-by":"crossref","first-page":"2205","DOI":"10.1210\/jcem.86.5.7516","article-title":"Enhanced activity of the purine nucleotide cycle of the exercising muscle in patients with hyperthyroidism","volume":"86","author":"Fukui","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.metabol.2012.07.007_bb0490","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1172\/JCI111265","article-title":"Myoadenylate deaminase deficiency. Functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle","volume":"73","author":"Sabina","year":"1984","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0495","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1007\/s11011-008-9122-5","article-title":"Interorgan ammonia trafficking in liver disease","volume":"24","author":"Olde Damink","year":"2009","journal-title":"Metab Brain Dis"},{"key":"10.1016\/j.metabol.2012.07.007_bb0500","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/S0016-5085(19)35245-X","article-title":"The relative role of extremity, liver, and kidney as ammonia receivers and donors in patients with liver disease","volume":"39","author":"Tyor","year":"1960","journal-title":"Gastroenterology"},{"key":"10.1016\/j.metabol.2012.07.007_bb0505","doi-asserted-by":"crossref","first-page":"17222","DOI":"10.1073\/pnas.0403704101","article-title":"Human Rhesus-associated glycoprotein mediates facilitated transport of NH(3) into red blood cells","volume":"101","author":"Ripoche","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.metabol.2012.07.007_bb0510","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1136\/gut.46.6.849","article-title":"Post-feeding hyperammonaemia in patients with transjugular intrahepatic portosystemic shunt and liver cirrhosis: role of small intestinal ammonia release and route of nutrient administration","volume":"46","author":"Plauth","year":"2000","journal-title":"Gut"},{"key":"10.1016\/j.metabol.2012.07.007_bb0515","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1053\/jhep.2002.36497","article-title":"Interorgan ammonia and amino acid metabolism in metabolically stable patients with cirrhosis and a TIPSS","volume":"36","author":"Olde Damink","year":"2002","journal-title":"Hepatology"},{"key":"10.1016\/j.metabol.2012.07.007_bb0520","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1172\/JCI103070","article-title":"Ammonium tolerance in liver disease: observations based on catheterization of the hepatic veins","volume":"34","author":"White","year":"1955","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0525","first-page":"543","article-title":"Studies of the source and significance of blood ammonia. IV. Early ammonia peaks after ingestion of ammonium salts","volume":"45","author":"Conn","year":"1972","journal-title":"Yale J Biol Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0530","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1172\/JCI107410","article-title":"Maximal rates of excretion and synthesis of urea in normal and cirrhotic subjects","volume":"52","author":"Rudman","year":"1973","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0535","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1093\/ajcn\/26.9.916","article-title":"Comparison of the effect of various amino acids upon the blood ammonia concentration of patients with liver disease","volume":"26","author":"Rudman","year":"1973","journal-title":"Am J Clin Nutr"},{"key":"10.1016\/j.metabol.2012.07.007_bb0540","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1172\/JCI104039","article-title":"The kidney as a source of blood ammonia in patients with liver disease: the effect of acetazolamide","volume":"39","author":"Owen","year":"1960","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0545","doi-asserted-by":"crossref","first-page":"696","DOI":"10.3181\/00379727-102-25366","article-title":"Kidney as a source of blood ammonia: effect of chlorothiazide","volume":"102","author":"Owen","year":"1959","journal-title":"Proc Soc Exp Biol Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0550","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1172\/JCI104761","article-title":"Relation of acute potassium depletion to renal ammonium metabolism in patients with cirrhosis","volume":"42","author":"Baertl","year":"1963","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0555","first-page":"849","article-title":"The effect of acute hyperventilation on the blood ammonia concenration of patients with liver disease. The relative role of the kidney, liver, and extremity","volume":"55","author":"Berry","year":"1960","journal-title":"J Lab Clin Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0560","doi-asserted-by":"crossref","first-page":"1150","DOI":"10.1111\/j.1478-3231.2011.02544.x","article-title":"Urinary ammonia excretion increases acutely during living donor liver transplantation","volume":"31","author":"Mpabanzi","year":"2011","journal-title":"Liver Int"},{"key":"10.1016\/j.metabol.2012.07.007_bb0565","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1016\/0002-8703(55)90178-2","article-title":"The blood ammonia in congestive heart failure","volume":"50","author":"Bessman","year":"1955","journal-title":"Am Heart J"},{"key":"10.1016\/j.metabol.2012.07.007_bb0570","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1053\/gast.2001.29310","article-title":"Cerebral metabolism of ammonia and amino acids in patients with fulminant hepatic failure","volume":"121","author":"Strauss","year":"2001","journal-title":"Gastroenterology"},{"key":"10.1016\/j.metabol.2012.07.007_bb0575","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1056\/NEJM195208142470703","article-title":"The syndrome of impending hepatic coma in patients with cirrhosis of the liver given certain nitrogenous substances","volume":"247","author":"Phillips","year":"1952","journal-title":"N Engl J Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0580","first-page":"499","article-title":"Blood ammonia and electrolytes in hepatic coma","volume":"42","author":"Schwartz","year":"1953","journal-title":"J Lab Clin Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0585","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1016\/S0140-6736(55)90422-0","article-title":"Blood-ammonium levels in liver disease and hepatic coma","volume":"268","author":"Phear","year":"1955","journal-title":"Lancet"},{"key":"10.1016\/j.metabol.2012.07.007_bb0590","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1001\/archinte.1956.00250240013001","article-title":"Ammonia intoxication and hepatic coma","volume":"97","author":"Summerskill","year":"1956","journal-title":"AMA Arch Intern Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0595","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1001\/jama.1956.02970050012003","article-title":"Toxic effects of ammonium chloride in cardiac, renal and hepatic disease","volume":"161","author":"Sievers","year":"1956","journal-title":"J Am Med Assoc"},{"key":"10.1016\/j.metabol.2012.07.007_bb0600","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/0002-9343(59)90060-9","article-title":"Biochemical, blood gas and peripheral circulatory alterations in hepatic coma","volume":"27","author":"Tyor","year":"1959","journal-title":"Am J Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0605","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/S0002-9343(02)01477-8","article-title":"Correlation between ammonia levels and the severity of hepatic encephalopathy","volume":"114","author":"Ong","year":"2003","journal-title":"Am J Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0610","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1002\/hep.510290309","article-title":"Cerebral herniation in patients with acute liver failure is correlated with arterial ammonia concentration","volume":"29","author":"Clemmesen","year":"1999","journal-title":"Hepatology"},{"key":"10.1016\/j.metabol.2012.07.007_bb0615","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1016\/j.clinbiochem.2005.04.013","article-title":"Evaluation of plasma ammonia levels in patients with acute liver failure and chronic liver disease and its correlation with the severity of hepatic encephalopathy and clinical features of raised intracranial tension","volume":"38","author":"Kundra","year":"2005","journal-title":"Clin Biochem"},{"key":"10.1016\/j.metabol.2012.07.007_bb0620","doi-asserted-by":"crossref","first-page":"1844","DOI":"10.1002\/hep.21838","article-title":"Arterial ammonia and clinical risk factors for encephalopathy and intracranial hypertension in acute liver failure","volume":"46","author":"Bernal","year":"2007","journal-title":"Hepatology"},{"key":"10.1016\/j.metabol.2012.07.007_bb0625","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1136\/gut.2004.061754","article-title":"Predictive value of arterial ammonia for complications and outcome in acute liver failure","volume":"55","author":"Bhatia","year":"2006","journal-title":"Gut"},{"key":"10.1016\/j.metabol.2012.07.007_bb0630","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/sj.jcbfm.9600168","article-title":"Persistent arterial hyperammonemia increases the concentration of glutamine and alanine in the brain and correlates with intracranial pressure in patients with fulminant hepatic failure","volume":"26","author":"Tofteng","year":"2006","journal-title":"J Cereb Blood Flow Metab"},{"key":"10.1016\/j.metabol.2012.07.007_bb0635","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1007\/s11011-011-9251-0","article-title":"Absence of neuropsychological impairment in hyperammonaemia in healthy young adults; possible synergism in development of hepatic encephalopathy (HE) symptoms?","volume":"26","author":"Wilkinson","year":"2011","journal-title":"Metab Brain Dis"},{"key":"10.1016\/j.metabol.2012.07.007_bb0640","doi-asserted-by":"crossref","first-page":"1500","DOI":"10.1056\/NEJM198406073102304","article-title":"Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies","volume":"310","author":"Msall","year":"1984","journal-title":"N Engl J Med"},{"issue":"Suppl 1","key":"10.1016\/j.metabol.2012.07.007_bb0645","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1023\/A:1005374027693","article-title":"Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan","volume":"21","author":"Uchino","year":"1998","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.metabol.2012.07.007_bb0650","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1203\/PDR.0b013e3181a27a16","article-title":"Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders","volume":"66","author":"Krivitzky","year":"2009","journal-title":"Pediatr Res"},{"key":"10.1016\/j.metabol.2012.07.007_bb0655","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1007\/s10545-007-0709-5","article-title":"Neurological implications of urea cycle disorders","volume":"30","author":"Gropman","year":"2007","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.metabol.2012.07.007_bb0660","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1136\/jnnp.52.5.648","article-title":"Familial lysinuric protein intolerance presenting as coma in two adult siblings","volume":"52","author":"Shaw","year":"1989","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.metabol.2012.07.007_bb0665","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1002\/ajmg.c.30287","article-title":"Lysinuric protein intolerance: reviewing concepts on a multisystem disease","volume":"157","author":"Sebastio","year":"2011","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.metabol.2012.07.007_bb0670","first-page":"231","article-title":"Lysinuric protein intolerance presenting as coma in a middle-aged man","volume":"165","author":"Gare","year":"1996","journal-title":"West J Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0675","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1007\/BF01955906","article-title":"Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance","volume":"152","author":"DiRocco","year":"1993","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.metabol.2012.07.007_bb0680","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1111\/j.1651-2227.2003.tb00586.x","article-title":"Carnitine\u2013acylcarnitine translocase deficiency: case report and review of the literature","volume":"92","author":"Rubio-Gozalbo","year":"2003","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.metabol.2012.07.007_bb0685","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/ajmg.c.30087","article-title":"Disorders of carnitine transport and the carnitine cycle","volume":"142C","author":"Longo","year":"2006","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.metabol.2012.07.007_bb0690","first-page":"931","article-title":"Carnitine\u2013acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype","volume":"30","author":"Al-Sannaa","year":"2010","journal-title":"Saudi Med J"},{"key":"10.1016\/j.metabol.2012.07.007_bb0695","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/humu.21607","article-title":"Genotype\u2013phenotype correlation in primary carnitine deficiency","volume":"33","author":"Rose","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1016\/j.metabol.2012.07.007_bb0700","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1007\/s11606-007-0473-0","article-title":"Hyperammonemic encephalopathy caused by carnitine deficiency","volume":"23","author":"Limketkai","year":"2008","journal-title":"J Gen Intern Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0705","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.ymgme.2005.09.020","article-title":"Medium-chain acyl-CoA dehydrogenase deficiency: genotype\u2013biochemical phenotype correlations","volume":"87","author":"Waddell","year":"2006","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.metabol.2012.07.007_bb0710","doi-asserted-by":"crossref","first-page":"1594","DOI":"10.1007\/s00134-003-1871-3","article-title":"Adult presentation of MCAD deficiency revealed by coma and severe arrhythmias","volume":"29","author":"Feillet","year":"2003","journal-title":"Intensive Care Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0715","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1172\/JCI113679","article-title":"Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome","volume":"82","author":"Corkey","year":"1988","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0720","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1111\/j.1600-0404.1992.tb05085.x","article-title":"Carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma","volume":"86","author":"Verbiest","year":"1992","journal-title":"Acta Neurol Scand"},{"key":"10.1016\/j.metabol.2012.07.007_bb0725","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1212\/WNL.54.1.230","article-title":"Valproate-induced hyperammonemic encephalopathy in the presence of topiramate","volume":"54","author":"Hamer","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.metabol.2012.07.007_bb0730","doi-asserted-by":"crossref","first-page":"35","DOI":"10.2146\/ajhp110049","article-title":"Levocarnitine for valproic-acid-induced hyperammonemic encephalopathy","volume":"69","author":"Mock","year":"2012","journal-title":"Am J Health Syst Pharm"},{"key":"10.1016\/j.metabol.2012.07.007_bb0735","first-page":"236","article-title":"Isovaleric acidemia diagnosed promptly by tandem mass spectrometry: report of one case","volume":"45","author":"Wei","year":"2004","journal-title":"Acta Paediatr Taiwan"},{"key":"10.1016\/j.metabol.2012.07.007_bb0740","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.ymgme.2005.11.016","article-title":"Metabolic changes associated with hyperammonemia in patients with propionic acidemia","volume":"88","author":"Filipowicz","year":"2006","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.metabol.2012.07.007_bb0745","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ymgme.2011.08.034","article-title":"Chronic management and health supervision of individuals with propionic acidemia","volume":"105","author":"Sutton","year":"2012","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.metabol.2012.07.007_bb0750","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.ymgme.2009.03.006","article-title":"Long-term outcome in methylmalonic aciduria: a series of 30 French patients","volume":"97","author":"Cosson","year":"2009","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.metabol.2012.07.007_bb0755","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/S1096-7192(03)00095-7","article-title":"N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria","volume":"79","author":"Gebhardt","year":"2003","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.metabol.2012.07.007_bb0760","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/s10545-005-5260-7","article-title":"N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia","volume":"28","author":"Gebhardt","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.metabol.2012.07.007_bb0765","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1007\/s00431-010-1362-9","article-title":"N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia","volume":"170","author":"Kasapkara","year":"2011","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.metabol.2012.07.007_bb0770","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1016\/j.clinthera.2010.04.004","article-title":"Outpatient treatment of propionic acidemia-associated hyperammonemia with N-carbamoyl-L-glutamate in an infant","volume":"32","author":"Soyucen","year":"2010","journal-title":"Clin Ther"},{"key":"10.1016\/j.metabol.2012.07.007_bb0775","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1002\/ana.410110110","article-title":"Ammonia metabolism in Reye syndrome and the effect of citrulline","volume":"11","author":"DeLong","year":"1982","journal-title":"Ann Neurol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0780","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1016\/S0140-6736(02)11084-1","article-title":"Urinary tract infection and coma","volume":"360","author":"De Jonghe","year":"2002","journal-title":"Lancet"},{"key":"10.1016\/j.metabol.2012.07.007_bb0785","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1542\/peds.65.2.294","article-title":"Ammonia encephalopathy secondary to urinary tract infection with Proteus mirabilis","volume":"65","author":"Samtoy","year":"1980","journal-title":"Pediatrics"},{"key":"10.1016\/j.metabol.2012.07.007_bb0790","first-page":"1119","article-title":"Idiopathic hyperammonemia: a frequently lethal complication of bone marrow transplantation","volume":"17","author":"Davies","year":"1996","journal-title":"Bone Marrow Transplant"},{"key":"10.1016\/j.metabol.2012.07.007_bb0795","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/sj.bmt.1702485","article-title":"Hyperammonemia after high-dose chemotherapy and stem cell transplantation","volume":"26","author":"Frere","year":"2000","journal-title":"Bone Marrow Transplant"},{"key":"10.1016\/j.metabol.2012.07.007_bb0800","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1016\/S0002-9343(88)80239-0","article-title":"Syndrome of idiopathic hyperammonemia after high-dose chemotherapy: review of nine cases","volume":"85","author":"Mitchell","year":"1988","journal-title":"Am J Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0805","doi-asserted-by":"crossref","first-page":"283","DOI":"10.7326\/0003-4819-132-4-200002150-00006","article-title":"Fatal hyperammonemia after orthotopic lung transplantation","volume":"132","author":"Lichtenstein","year":"2000","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0810","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1007\/s00431-007-0592-y","article-title":"Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review","volume":"167","author":"Yen","year":"2008","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.metabol.2012.07.007_bb0815","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1056\/NEJMra022567","article-title":"Mitochondrial respiratory-chain diseases","volume":"348","author":"DiMauro","year":"2003","journal-title":"N Engl J Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0820","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1111\/j.1651-2227.1985.tb10073.x","article-title":"Pyruvate\u2013carboxylase deficiency with urea cycle impairment","volume":"74","author":"Greter","year":"1985","journal-title":"Acta Paediatr Scand"},{"key":"10.1016\/j.metabol.2012.07.007_bb0825","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1007\/BF01799978","article-title":"Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency","volume":"10","author":"Brown","year":"1987","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.metabol.2012.07.007_bb0830","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1136\/adc.77.5.441","article-title":"Hyperammonaemia with distal renal tubular acidosis","volume":"77","author":"Miller","year":"1997","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.metabol.2012.07.007_bb0835","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1016\/S0022-5347(17)50606-0","article-title":"Ammoniagenic coma following ureterosigmoidostomy","volume":"131","author":"Kaufman","year":"1984","journal-title":"J Urol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0840","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1097\/00003246-199004000-00023","article-title":"Essential amino acid-induced adult hyperammonemic encephalopathy and hypophosphatemia","volume":"18","author":"Lamiell","year":"1990","journal-title":"Crit Care Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0845","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1093\/jjco\/hyi214","article-title":"Intermediate dose 5-fluorouracil-induced encephalopathy","volume":"36","author":"Kim","year":"2006","journal-title":"Jpn J Clin Oncol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0850","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1111\/j.1600-0404.1984.tb07799.x","article-title":"Hyperammonemia in asterixis induced by carbamazepine: two case reports","volume":"69","author":"Ambrosetto","year":"1984","journal-title":"Acta Neurol Scand"},{"key":"10.1016\/j.metabol.2012.07.007_bb0855","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1016\/S0022-5347(17)49984-8","article-title":"Hyperammonemia after transurethral resection of the prostate: a report of 2 cases","volume":"132","author":"Ryder","year":"1984","journal-title":"J Urol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0860","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1001\/archinte.1956.00250240114011","article-title":"Respiratory alkalosis in hepatic coma","volume":"97","author":"Vanamee","year":"1956","journal-title":"AMA Arch Intern Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0865","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1097\/00005792-196703000-00010","article-title":"Acid\u2013base disturbances in patients with cirrhosis of the liver","volume":"46","author":"Mulhausen","year":"1967","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.metabol.2012.07.007_bb0870","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1097\/00000441-196712000-00004","article-title":"The cause of hyperventilation and arterial hypoxia in patients with cirrhosis of the liver","volume":"254","author":"Karetzky","year":"1967","journal-title":"Am J Med Sci"},{"key":"10.1016\/j.metabol.2012.07.007_bb0875","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1023\/A:1005659132147","article-title":"The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia","volume":"23","author":"Ierardi-Curto","year":"2000","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.metabol.2012.07.007_bb0880","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1542\/peds.56.6.999","article-title":"Studies on the pathophysiology of encephalopathy in Reye's syndrome; hyperammonemia in Reye's syndrome","volume":"56","author":"Shannon","year":"1975","journal-title":"Pediatrics"},{"key":"10.1016\/j.metabol.2012.07.007_bb0885","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1038\/bjc.1997.79","article-title":"High-dose 5-fluorouracil infusional therapy is associated with hyperammonaemia, lactic acidosis and encephalopathy","volume":"75","author":"Yeh","year":"1997","journal-title":"Br J Cancer"},{"key":"10.1016\/j.metabol.2012.07.007_bb0890","doi-asserted-by":"crossref","first-page":"1486","DOI":"10.1172\/JCI102389","article-title":"A study of pyruvic acid in the blood and spinal fluid of patients with liver disease with and without hepatic coma","volume":"29","author":"Amatuzio","year":"1950","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0895","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/S0168-8278(85)80778-9","article-title":"Lactic acidosis in fulminant hepatic failure. Some aspects of pathogenesis and prognosis","volume":"1","author":"Bihari","year":"1985","journal-title":"J Hepatol"},{"key":"10.1016\/j.metabol.2012.07.007_bb0905","doi-asserted-by":"crossref","first-page":"167","DOI":"10.3181\/00379727-118-29787","article-title":"Organic phosphate compounds of erythrocytes from individuals with cirrhosis of the liver","volume":"118","author":"Hurt","year":"1965","journal-title":"Proc Soc Exp Biol Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0910","doi-asserted-by":"crossref","first-page":"311","DOI":"10.3109\/00365517309082436","article-title":"Oxygen affinity of hemoglobin and red cell 2,3-diphosphoglycerate in hepatic cirrhosis","volume":"31","author":"Astrup","year":"1973","journal-title":"Scand J Clin Lab Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0915","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1097\/00003246-198512000-00010","article-title":"Tissue hypoxia during fulminant hepatic failure","volume":"13","author":"Bihari","year":"1985","journal-title":"Crit Care Med"},{"key":"10.1016\/j.metabol.2012.07.007_bb0920","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1172\/JCI100928","article-title":"Respiratory properties of the arterial blood in normal man and in patients with disease of the liver: position of the oxygen dissociation curve","volume":"17","author":"Keys","year":"1938","journal-title":"J Clin Invest"},{"key":"10.1016\/j.metabol.2012.07.007_bb0900","first-page":"125","article-title":"Effects of metabolic alkalosis, metabolic acidosis and uraemia on whole-body intracellular pH in man","volume":"52","author":"Tizianello","year":"1977","journal-title":"Clin Sci Mol Med"}],"container-title":["Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0026049512002703?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0026049512002703?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T03:57:39Z","timestamp":1758427059000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0026049512002703"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11]]},"references-count":184,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2012,11]]}},"alternative-id":["S0026049512002703"],"URL":"https:\/\/doi.org\/10.1016\/j.metabol.2012.07.007","relation":{},"ISSN":["0026-0495"],"issn-type":[{"value":"0026-0495","type":"print"}],"subject":[],"published":{"date-parts":[[2012,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Ammonium metabolism in humans","name":"articletitle","label":"Article Title"},{"value":"Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.metabol.2012.07.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Elsevier Inc. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}