{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T09:38:19Z","timestamp":1793353099464,"version":"4.5.0"},"reference-count":47,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2005,3,1]],"date-time":"2005-03-01T00:00:00Z","timestamp":1109635200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2005,3]]},"DOI":"10.1016\/j.ymgme.2004.11.004","type":"journal-article","created":{"date-parts":[[2004,12,22]],"date-time":"2004-12-22T01:37:00Z","timestamp":1103679420000},"page":"243-251","source":"Crossref","is-referenced-by-count":120,"title":["Hyperargininemia due to liver arginase deficiency"],"prefix":"10.1016","volume":"84","author":[{"given":"Eric A.","family":"Crombez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen D.","family":"Cederbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2004.11.004_bib1","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"1909","article-title":"Urea cycle enzymes","author":"Brusilow","year":"2001"},{"key":"10.1016\/j.ymgme.2004.11.004_bib2","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/9658","article-title":"Hyperornithinaemia\u2013hyperammonaemia\u2013homocitrullinursyndrome syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter","volume":"22","author":"Camacho","year":"1999","journal-title":"Nat. Genet."},{"issue":"Suppl. 1","key":"10.1016\/j.ymgme.2004.11.004_bib3","doi-asserted-by":"crossref","first-page":"S20","DOI":"10.1016\/j.ymgme.2004.01.006","article-title":"Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle","volume":"81","author":"Saheki","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2004.11.004_bib4","series-title":"Guanidino Compounds in Biology and Medicine","first-page":"363","article-title":"Guanidino compounds in hyperargininemia","author":"Marescau","year":"1992"},{"key":"10.1016\/j.ymgme.2004.11.004_bib5","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/ajmg.1320390226","article-title":"Estimated frequency of urea cycle enzymopathies in Japan","volume":"39","author":"Nagata","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2004.11.004_bib6","first-page":"876","article-title":"A simple screening test for arginase deficiency (hyperargininemia)","volume":"89","author":"Naylor","year":"1977","journal-title":"J. Lab. Clin. Med."},{"key":"10.1016\/j.ymgme.2004.11.004_bib7","first-page":"176","article-title":"Argininuria, convulsions and oligophrenia; a new inborn error of metabolism?","volume":"97","author":"Peralta Serrano","year":"1965","journal-title":"Rev. Clin. Esp."},{"key":"10.1016\/j.ymgme.2004.11.004_bib8","series-title":"Guanidino Compounds in Biology and Medicine","first-page":"53","article-title":"Hyperargininemia: a treatable inborn error of metabolism","author":"De Deyn","year":"1997"},{"key":"10.1016\/j.ymgme.2004.11.004_bib9","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/BF02310878","article-title":"A new French-Canadian family affected by hyperargininemia","volume":"6","author":"Qureshi","year":"1983","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2004.11.004_bib10","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1073\/pnas.84.2.412","article-title":"Molecular cloning and nucleotide sequence of cDNA for human liver arginase","volume":"84","author":"Haraguchi","year":"1987","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymgme.2004.11.004_bib11","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/S0006-291X(86)80333-3","article-title":"Isolation of human liver arginase cDNA and demonstration of nonhomology between the two human arginase genes","volume":"141","author":"Dizikes","year":"1986","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2004.11.004_bib12","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/BF00210403","article-title":"Molecular basis of phenotypic variation in patients with argininemia","volume":"96","author":"Uchino","year":"1995","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2004.11.004_bib13","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1002\/humu.1380040210","article-title":"Identification of mutations(D128G, H141L) in the liver arginase gene of patients with hyperargininemia","volume":"4","author":"Vockley","year":"1994","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2004.11.004_bib14","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1006\/bmme.1996.0063","article-title":"Loss of function mutations in conserved regions of the human arginase I gene","volume":"59","author":"Vockley","year":"1996","journal-title":"Biochem. Mol. Med."},{"key":"10.1016\/j.ymgme.2004.11.004_bib15","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1038\/383554a0","article-title":"Structure of a unique binuclear manganese cluster in arginase","volume":"383","author":"Kanyo","year":"1996","journal-title":"Nature"},{"key":"10.1016\/j.ymgme.2004.11.004_bib16","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1006\/mgme.1998.2677","article-title":"Molecular basis of hyperargininemia: structure\u2013function consequences of mutations in human liver arginase","volume":"64","author":"Ash","year":"1998","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2004.11.004_bib17","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1006\/geno.1996.0606","article-title":"Cloning and characterization of the human type II arginase gene","volume":"38","author":"Vockley","year":"1996","journal-title":"Genomics"},{"key":"10.1016\/j.ymgme.2004.11.004_bib18","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S0378-1119(97)00099-1","article-title":"Human type II arginase: sequence analysis and tissue-specific expression","volume":"193","author":"Morris","year":"1997","journal-title":"Gene"},{"key":"10.1016\/j.ymgme.2004.11.004_bib19","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/0014-5793(96)01015-0","article-title":"Molecular cloning of cDNA for nonhepatic mitochondrial arginase(arginase II) and comparison of its induction with nitric oxide synthase in a murine macrophage-like cell line","volume":"395","author":"Gotoh","year":"1996","journal-title":"FEBS Lett."},{"issue":"Suppl. 1","key":"10.1016\/j.ymgme.2004.11.004_bib20","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.ymgme.2004.11.004_bib21","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.ymgme.2004.11.004_bib22","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/S0022-3476(77)80368-5","article-title":"Hyperargininemia","volume":"90","author":"Cederbaum","year":"1977","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2004.11.004_bib23","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/S0022-3476(86)80891-5","article-title":"Arginase deficiency in a 12-year-old boy with mild impairment of intellectual function","volume":"108","author":"Bernar","year":"1986","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2004.11.004_bib24","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1203\/00006450-197907000-00007","article-title":"Hyperargininemia with arginase deficiency","volume":"13","author":"Cederbaum","year":"1979","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2004.11.004_bib25","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1097\/00005176-199702000-00018","article-title":"Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis","volume":"24","author":"Braga","year":"1997","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"10.1016\/j.ymgme.2004.11.004_bib26","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1007\/BF00711592","article-title":"Menstrual cycle and gonadal steroid effects on symptomatic hyperammonaemia of urea-cycle-based and idiopathic aetiologies","volume":"17","author":"Grody","year":"1994","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2004.11.004_bib27","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1007\/BF00438893","article-title":"Hyperargininemia with arginase deficiency. A new familial metabolic disease. II. Biochemical studies","volume":"107","author":"Terheggen","year":"1970","journal-title":"Z Kinderheilkd"},{"key":"10.1016\/j.ymgme.2004.11.004_bib28","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1136\/adc.50.1.57","article-title":"Familial hyperargininemia","volume":"50","author":"Terheggen","year":"1975","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ymgme.2004.11.004_bib29","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1016\/S0022-3476(77)80367-3","article-title":"Argininemia","volume":"90","author":"Snyderman","year":"1977","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2004.11.004_bib30","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/BF02263653","article-title":"Urinary pyrimidine excretion in arginase deficiency","volume":"4","author":"Naylor","year":"1981","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2004.11.004_bib31","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1067\/mpd.2003.97","article-title":"Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema","volume":"142","author":"Picker","year":"2003","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2004.11.004_bib32","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1203\/00006450-199003000-00020","article-title":"Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: follow-up of guanidino compound levels during therapy","volume":"27","author":"Marescau","year":"1990","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ymgme.2004.11.004_bib33","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1016\/0026-0495(92)90131-S","article-title":"The pathobiochemistry of uremia and hyperargininemia further demonstrates a metabolic relationship between urea and guanidinosuccinic acid","volume":"41","author":"Marescau","year":"1992","journal-title":"Metabolism"},{"key":"10.1016\/j.ymgme.2004.11.004_bib34","doi-asserted-by":"crossref","first-page":"8021","DOI":"10.1073\/pnas.140082197","article-title":"In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle","volume":"97","author":"Lee","year":"2000","journal-title":"Proc. Natl. Acad. Sci. USA"},{"issue":"Supp. 10","key":"10.1016\/j.ymgme.2004.11.004_bib35","doi-asserted-by":"crossref","first-page":"2775S","DOI":"10.1093\/jn\/134.10.2775S","article-title":"Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism","volume":"134","author":"Scaglia","year":"2004","journal-title":"J. Nutr."},{"key":"10.1016\/j.ymgme.2004.11.004_bib36","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1111\/j.1399-0004.1978.tb04128.x","article-title":"Arginase deficiency in multiple tissues in argininemia","volume":"13","author":"Michels","year":"1978","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2004.11.004_bib37","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1172\/JCI113923","article-title":"Differential expression of the two human arginase genes in hyperargininemia. Enzymatic, pathologic, and molecular analysis","volume":"83","author":"Grody","year":"1989","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2004.11.004_bib38","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.ymgme.2004.11.004_bib39","doi-asserted-by":"crossref","first-page":"4491","DOI":"10.1128\/MCB.22.13.4491-4498.2002","article-title":"Mouse model for human arginase deficiency","volume":"22","author":"Iyer","year":"2002","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ymgme.2004.11.004_bib40","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S0925-4773(02)00089-8","article-title":"Arginase expression in mouse embryonic development","volume":"115","author":"Yu","year":"2002","journal-title":"Mech. Dev."},{"key":"10.1016\/j.ymgme.2004.11.004_bib41","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/S1096-7192(02)00034-3","article-title":"Expression of the liver form of arginase in erythrocytes","volume":"76","author":"Kim","year":"2002","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2004.11.004_bib42","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/S0022-3476(79)80082-7","article-title":"Argininemia treated from birth","volume":"95","author":"Snyderman","year":"1979","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2004.11.004_bib43","series-title":"Guanidino Compounds: 2 eds.","author":"De Deyn","year":"1997"},{"key":"10.1016\/j.ymgme.2004.11.004_bib44","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.ymgme.2004.11.004_bib45","first-page":"79","article-title":"Properties of fetal and adult red blood cell arginase: a possible prenatal diagnostic test for arginase deficiency","volume":"32","author":"Spector","year":"1980","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2004.11.004_bib46","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1023\/A:1025964401618","article-title":"Prenatal diagnosis for arginase deficiency: a case study","volume":"26","author":"Hewson","year":"2003","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2004.11.004_bib47","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1097\/00019616-200203000-00008","article-title":"Management of inherited disorders of ureagenesis","volume":"12","author":"Tuchman","year":"2002","journal-title":"The Endocrinologist"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719204002999?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719204002999?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,30]],"date-time":"2019-01-30T20:22:49Z","timestamp":1548879769000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719204002999"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3]]},"references-count":47,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,3]]}},"alternative-id":["S1096719204002999"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2004.11.004","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2005,3]]}}}