{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T14:35:58Z","timestamp":1784903758425,"version":"3.55.0"},"reference-count":20,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"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":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2008,1]]},"DOI":"10.1016\/j.jns.2007.08.003","type":"journal-article","created":{"date-parts":[[2007,9,8]],"date-time":"2007-09-08T11:18:08Z","timestamp":1189250288000},"page":"187-194","source":"Crossref","is-referenced-by-count":35,"title":["Hyperornithinemia\u2013hyperammonemia\u2013homocitrullinuria syndrome with stroke-like imaging presentation: Clinical, biochemical and molecular analysis"],"prefix":"10.1016","volume":"264","author":[{"given":"Zuhair N.","family":"Al-Hassnan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed S.","family":"Rashed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osama Y.","family":"Al-Dirbashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoltan","family":"Patay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zuhair","family":"Rahbeeni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khaled K.","family":"Abu-Amero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2007.08.003_bib1","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/9658","article-title":"Hyperornithinaemia\u2013hyperammonaemia\u2013homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter","volume":"22","author":"Camacho","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.jns.2007.08.003_bib2","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/S0022-3476(05)81900-6","article-title":"Hyperammonemia\u2013hyperornithinemia\u2013homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients","volume":"121","author":"Lemay","year":"1992","journal-title":"J Pediatr"},{"key":"10.1016\/j.jns.2007.08.003_bib3","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1055\/s-2008-1071479","article-title":"Acute hemiparesis as the presenting sign in a heterozygote for ornithine transcarbamylase deficiency","volume":"21","author":"de Grauw","year":"1990","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.jns.2007.08.003_bib4","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1055\/s-2007-973705","article-title":"Metabolic stroke in carbamyl phosphate synthetase deficiency","volume":"28","author":"Sperl","year":"1997","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.jns.2007.08.003_bib5","doi-asserted-by":"crossref","first-page":"S94","DOI":"10.1007\/BF02138786","article-title":"Neurological manifestations of organic acid disorders","volume":"153","author":"Hoffmann","year":"1994","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jns.2007.08.003_bib6","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1007\/BF01799111","article-title":"Neurological presentations of mitochondrial diseases","volume":"19","author":"Zeviani","year":"1996","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jns.2007.08.003_bib7","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1023\/A:1024497419821","article-title":"Classical homocystinuria: vascular risk and its prevention","volume":"26","author":"Yap","year":"2003","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jns.2007.08.003_bib8","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1203\/01.pdr.0000238301.25938.f5","article-title":"Clinical and functional characterization of a human ORNT1 mutation (T32R) in the Hyperornithinemia\u2013hyperammonemia\u2013homocitrullinuria (HHH) syndrome","volume":"60","author":"Camacho","year":"2006","journal-title":"Pediatr Res"},{"key":"10.1016\/j.jns.2007.08.003_bib9","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1007\/s00216-006-0831-5","article-title":"Determination of homocitrulline in urine of patients with HHH syndrome by liquid chromatography tandem mass spectrometry","volume":"386","author":"Al-Dirbashi","year":"2006","journal-title":"Anal Bioanal Chem"},{"key":"10.1016\/j.jns.2007.08.003_bib10","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1007\/s100380170075","article-title":"Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X","volume":"46","author":"Miyamoto","year":"2001","journal-title":"J Hum Genet"},{"key":"10.1016\/j.jns.2007.08.003_bib11","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1038\/sj.onc.1209094","article-title":"Association of mitochondrial DNA transversion mutations with familial medullary thyroid carcinoma\/multiple endocrine neoplasia type 2 syndrome","volume":"25","author":"Abu-Amero","year":"2006","journal-title":"Oncogene"},{"key":"10.1016\/j.jns.2007.08.003_bib12","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1007\/BF01195768","article-title":"Prediction of chain flexibility in proteins","volume":"72","author":"Karplus","year":"1985","journal-title":"Naturwissenschaften"},{"key":"10.1016\/j.jns.2007.08.003_bib13","unstructured":"D. Valle, O. Simell, Metabolic Basis of Inherited Disease. ed 5th ed., New York, McGraw-Hill, 1983."},{"key":"10.1016\/j.jns.2007.08.003_bib14","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1152\/physrev.1987.67.2.440","article-title":"Biochemistry and physiology of brain ammonia","volume":"67","author":"Cooper","year":"1987","journal-title":"Physiol Rev"},{"key":"10.1016\/j.jns.2007.08.003_bib15","first-page":"H825","article-title":"Inhibition of brain glutamine accumulation prevents cerebral edema in hyperammonemic rats","volume":"261","author":"Takahashi","year":"1991","journal-title":"Am J Physiol"},{"key":"10.1016\/j.jns.2007.08.003_bib16","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1016\/0306-4522(95)00462-9","article-title":"Inhibition of glutamine synthetase reduces ammonia-induced astrocyte swelling in rat","volume":"71","author":"Willard-Mack","year":"1996","journal-title":"Neuroscience"},{"key":"10.1016\/j.jns.2007.08.003_bib17","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1056\/NEJM199403033300907","article-title":"Excitatory amino acids as a final common pathway for neurologic disorders","volume":"330","author":"Lipton","year":"1994","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jns.2007.08.003_bib18","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/0006-8993(90)90836-Z","article-title":"Swelling-induced changes in electrophysiological properties of cultured astrocytes and oligodendrocytes. II. Whole-cell currents","volume":"529","author":"Kimelberg","year":"1990","journal-title":"Brain Res"},{"key":"10.1016\/j.jns.2007.08.003_bib19","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1161\/01.RES.71.5.1220","article-title":"Restoration of cerebrovascular CO2 responsivity by glutamine synthesis inhibition in hyperammonemic rats","volume":"71","author":"Takahashi","year":"1992","journal-title":"Circ Res"},{"key":"10.1016\/j.jns.2007.08.003_bib20","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/S1096-7192(03)00105-7","article-title":"Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the Hyperornithinemia\u2013hyperammonemia\u2013homocitrullinuria syndrome, a urea cycle disorder","volume":"79","author":"Camacho","year":"2003","journal-title":"Mol Genet Metab"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X0700531X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X0700531X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,5,3]],"date-time":"2019-05-03T00:11:44Z","timestamp":1556842304000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X0700531X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1]]},"references-count":20,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2008,1]]}},"alternative-id":["S0022510X0700531X"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2007.08.003","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2008,1]]}}}