{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T03:10:34Z","timestamp":1782789034888,"version":"3.54.5"},"reference-count":25,"publisher":"Croatian Society for Medical Biochemistry and Laboratory Medicine","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"DOI":"10.11613\/bm.2018.030801","type":"journal-article","created":{"date-parts":[[2018,10,9]],"date-time":"2018-10-09T13:49:27Z","timestamp":1539092967000},"source":"Crossref","is-referenced-by-count":9,"title":["Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report"],"prefix":"10.11613","volume":"28","author":[{"given":"Marija","family":"Zeku\u0161i\u0107","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"\u0160kari\u010di\u0107","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ksenija","family":"Fumi\u0107","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dunja","family":"Rogi\u0107","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamara","family":"\u017digman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danijela","family":"Petkovi\u0107 Ramad\u017ea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nenad","family":"Vukojevi\u0107","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"R\u00fcfenacht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Uroi\u0107","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivo","family":"Bari\u0107","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4885","published-online":{"date-parts":[[2018,10,15]]},"reference":[{"key":"key20181009094910_r1"},{"key":"key20181009094910_r2","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1136\/bjo.58.11.907","article-title":"Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.","volume":"58","author":"Takki","year":"1974","journal-title":"Br J Ophthalmol"},{"key":"key20181009094910_r3","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/S0161-6420(85)34022-8","article-title":"Gyrate atrophy of the choroid and retina. Early findings.","volume":"92","author":"Kaiser-Kupfer","year":"1985","journal-title":"Ophthalmology"},{"key":"key20181009094910_r4","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1620\/tjem.205.335","article-title":"Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.","volume":"205","author":"Ohkubo","year":"2005","journal-title":"Tohoku J Exp Med"},{"key":"key20181009094910_r5","doi-asserted-by":"crossref","first-page":"14288","DOI":"10.1016\/S0021-9258(18)68219-5","article-title":"Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene.","volume":"263","author":"Mitchell","year":"1988","journal-title":"J Biol Chem"},{"key":"key20181009094910_r6","first-page":"1037","article-title":"Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11. 2.","volume":"28","author":"Barrett","year":"1987","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"key20181009094910_r7","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/BF00284906","article-title":"Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes.","volume":"76","author":"Ramesh","year":"1987","journal-title":"Hum Genet"},{"key":"key20181009094910_r8","doi-asserted-by":"crossref","first-page":"1229","DOI":"10.1093\/oxfordjournals.jbchem.a133577","article-title":"Cell-free synthesis of ornithine aminotransferase of rat liver.","volume":"90","author":"Hayashi","year":"1981","journal-title":"J Biochem"},{"key":"key20181009094910_r9","unstructured":"ClinVar. Available at: https:\/\/www.ncbi.nlm.nih.gov\/clinvar. Accessed April 8th 2018."},{"key":"key20181009094910_r10","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/S0161-6420(81)35031-3","article-title":"The natural history of gyrate atrophy of the choroid and retina.","volume":"88","author":"Takki","year":"1981","journal-title":"Ophthalmology"},{"key":"key20181009094910_r11","first-page":"432","article-title":"Cataracts in gyrate atrophy: clinical and morphologic studies.","volume":"24","author":"Kaiser-Kupfer","year":"1983","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"key20181009094910_r12","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1126\/science.7444439","article-title":"Gyrate atrophy of the choroid and retina: improved visual function following reduction of plasma ornithine by diet.","volume":"210","author":"Kaiser-Kupfer","year":"1980","journal-title":"Science"},{"key":"key20181009094910_r13","unstructured":"Nomenclature by J-T.Den Dunnen. Available at: http:\/\/varnomen.hgvs.org\/ recommendations\/DNA\/. Accessed April 8th 2018."},{"key":"key20181009094910_r14","unstructured":"Name Checker Mutalyzer 2.0.26. Available at: https:\/\/mutalyzer.nl\/name-checker. Released on July 19th 2017."},{"key":"key20181009094910_r15","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1212\/WNL.29.7.996","article-title":"Gyrate atrophy of the choroid and retina with hyperornithinemia: tubular aggregates and type 2 fiber atrophy in muscle.","volume":"29","author":"Sipil\u00e4","year":"1979","journal-title":"Neurology"},{"key":"key20181009094910_r16","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1172\/JCI109680","article-title":"Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet.","volume":"65","author":"Valle","year":"1980","journal-title":"J Clin Invest"},{"key":"key20181009094910_r17","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1023\/A:1010545811361","article-title":"Sustained oral lysine supplementation in ornithine delta-aminotransferase deficiency.","volume":"24","author":"Elpeleg","year":"2001","journal-title":"J Inherit Metab Dis"},{"key":"key20181009094910_r18","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/BF01801668","article-title":"Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina.","volume":"8","author":"Wirtz","year":"1985","journal-title":"J Inherit Metab Dis"},{"key":"key20181009094910_r19","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/1752-1947-1-27","article-title":"Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report.","volume":"1","author":"Javadzadeh","year":"2007","journal-title":"J Med Case Rep."},{"key":"key20181009094910_r20","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/8904_2011_122","article-title":"The proline\/citrulline ratio as a biomarker for OAT deficiency in early infancy.","volume":"6","author":"de Sain-van Der Velden","year":"2012","journal-title":"JIMD Rep"},{"key":"key20181009094910_r21","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1007\/s10545-005-0074-1","article-title":"Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation.","volume":"28","author":"Cleary","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"key20181009094910_r22","first-page":"18","article-title":"Ornithine aminotransferase, an important glutamate-metabolizing enzyme at the crossroads of multiple metabolic pathways.","volume":"6","author":"Ginguay","year":"2017","journal-title":"Biology (Basel)"},{"key":"key20181009094910_r23","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1212\/WNL.59.5.735","article-title":"Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia.","volume":"59","author":"Peltola","year":"2002","journal-title":"Neurology"},{"key":"key20181009094910_r24","first-page":"429","article-title":"Hyperornithinemia and gyrate atrophy of choroid and retina: report of a case.","volume":"33","author":"Stoppoloni","year":"1978","journal-title":"Helv Paediatr Acta"},{"key":"key20181009094910_r25","doi-asserted-by":"crossref","first-page":"38","DOI":"10.3390\/genes1010038","article-title":"Next generation DNA sequencing and the future of genomic medicine.","volume":"1","author":"Anderson","year":"2010","journal-title":"Genes (Basel)"}],"container-title":["Biochemia Medica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.biochemia-medica.com\/en\/journal\/28\/3\/10.11613\/BM.2018.030801","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,3]],"date-time":"2022-09-03T17:25:19Z","timestamp":1662225919000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.biochemia-medica.com\/en\/journal\/28\/3\/10.11613\/BM.2018.030801"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,15]]},"references-count":25,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2018,10,15]]}},"alternative-id":["10.11613\/BM.2018.030801"],"URL":"https:\/\/doi.org\/10.11613\/bm.2018.030801","relation":{},"ISSN":["1330-0962","1846-7482"],"issn-type":[{"value":"1330-0962","type":"print"},{"value":"1846-7482","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10,15]]},"article-number":"030801"}}