{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:49:25Z","timestamp":1790419765298,"version":"4.1.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2011,5,31]],"date-time":"2011-05-31T00:00:00Z","timestamp":1306800000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[2012,1]]},"DOI":"10.1007\/s00431-011-1503-9","type":"journal-article","created":{"date-parts":[[2011,5,30]],"date-time":"2011-05-30T03:43:20Z","timestamp":1306727000000},"page":"131-138","source":"Crossref","is-referenced-by-count":27,"title":["Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature"],"prefix":"10.1007","volume":"171","author":[{"given":"Agnieszka","family":"Jurecka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elzbieta","family":"Jurkiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Tylki-Szymanska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,5,31]]},"reference":[{"key":"1503_CR1","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.neurad.2007.01.125","volume":"34","author":"AJ Barkovich","year":"2007","unstructured":"Barkovich AJ (2007) An approach to MRI of metabolic disorders in children. J Neuroradiol 34:75\u201388","journal-title":"J Neuroradiol"},{"key":"1503_CR2","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1055\/s-2002-34493","volume":"33","author":"M Castro","year":"2002","unstructured":"Castro M, Perez-Cerda C, Merinero B, Garcia MJ, Bernar J, Gill Nagel A, Torres J, Bermudez M, Garavito P, Marie S, Vincent F, Van den Berghe G, Ugarte M (2002) Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. Neuropediatrics 33:186\u2013189","journal-title":"Neuropediatrics"},{"key":"1503_CR3","first-page":"301","volume":"16","author":"F Ciardo","year":"2001","unstructured":"Ciardo F, Salerno C, Curatolo P (2001) Neurologic aspects of adenylosuccinate lyase deficiency. J Child Neurol 16:301\u2013308","journal-title":"J Child Neurol"},{"key":"1503_CR4","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1002\/ajmg.a.20176","volume":"120A","author":"P Edery","year":"2003","unstructured":"Edery P, Chabrier S, Ceballos-Picot I et al (2003) Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. Am J Med Genet 120A:185\u2013190","journal-title":"Am J Med Genet"},{"key":"1503_CR5","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1038\/ejhg.2008.174","volume":"17","author":"C Gitiaux","year":"2009","unstructured":"Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S et al (2009) Misleading bahavioural phenotype with adenylosuccinate lyase deficiency. Eur J Hum Genet 17:133\u2013136","journal-title":"Eur J Hum Genet"},{"key":"1503_CR6","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1136\/jmg.39.6.440","volume":"39","author":"M Holder-Espinasse","year":"2002","unstructured":"Holder-Espinasse M, Marie S, Bourrouillou G, Ceballos-Picot I, Nassogne M-C et al (2002) Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency? J Med Genet 39:440\u2013442","journal-title":"J Med Genet"},{"key":"1503_CR7","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1007\/BF02435992","volume":"15","author":"J Jaeken","year":"1992","unstructured":"Jaeken J, van den Bergh F, Vincent MF, Casaer P, van den Bergh G (1992) Adenylosuccinase deficiency: a newly recognized variant. J Inherit Metab Dis 15:416\u2013418","journal-title":"J Inherit Metab Dis"},{"key":"1503_CR8","first-page":"1058","volume":"2","author":"J Jaeken","year":"1984","unstructured":"Jaeken J, Van den Berghe G (1984) An infantile autistic syndrome characterized by the presence of succinylpurines in body fluids. Lancet 2:1058\u20131061","journal-title":"Lancet"},{"key":"1503_CR9","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1007\/BF00445919","volume":"148","author":"J Jaeken","year":"1988","unstructured":"Jaeken J, Wadman SK, Duran M, van Sprang FJ, Beemer FA et al (1988) Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr 148:126\u2013131","journal-title":"Eur J Pediatr"},{"key":"1503_CR10","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/j.ymgme.2008.04.013","volume":"94","author":"A Jurecka","year":"2008","unstructured":"Jurecka A, Zikanova M, Tylki-Szymanska A, Krijt J, Bogdanska A et al (2008) Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. Mol Genet Metab 94:435\u2013442","journal-title":"Mol Genet Metab"},{"key":"1503_CR11","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1016\/j.braindev.2007.03.005","volume":"29","author":"E Jurkiewicz","year":"2007","unstructured":"Jurkiewicz E, Mierzewska H, Kusmierska K (2007) Adenylosuccinate lyase deficiency: the first identified Polish patient. Brain Dev 29:600\u2013602","journal-title":"Brain Dev"},{"key":"1503_CR12","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1053\/ejpn.1999.0172","volume":"3","author":"M Kholer","year":"1999","unstructured":"Kholer M, Assmann B, Brautingam C, Storm W, Marie S et al (1999) Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features. Eur J Paediatr Neurol 3:3\u20136","journal-title":"Eur J Paediatr Neurol"},{"key":"1503_CR13","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1007\/978-1-4615-2584-4_79","volume":"370","author":"J Krijt","year":"1994","unstructured":"Krijt J, Sebesta I, Svehlakova A, Zumrova A, Zeman J (1994) Adenylosuccinate lyase deficiency in a Czech girl and two siblings. Adv Exp Med Biol 370:367\u2013370","journal-title":"Adv Exp Med Biol"},{"key":"1503_CR14","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.pediatrneurol.2010.06.007","volume":"43","author":"CT Lundy","year":"2010","unstructured":"Lundy CT, Jungbluth H, Pohl KRE, Siddiqui A, Marinaki AM, Mundy H, Champion MP (2010) Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. Pediatr Neurol 43:351\u2013354","journal-title":"Pediatr Neurol"},{"key":"1503_CR15","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1023\/A:1005323512982","volume":"20","author":"PD Maaswinkel-Mooij","year":"1997","unstructured":"Maaswinkel-Mooij PD, Laan LA, Onkenhout W, Brouwer OF, Jaeken J, Poorthuis BJ (1997) Adenylosuccinase deficiency presenting with epilepsy in early infant. J Inherit Metab Dis 20:606\u2013607","journal-title":"J Inherit Metab Dis"},{"key":"1503_CR16","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1081\/NCN-200027494","volume":"23","author":"AM Marinaki","year":"2004","unstructured":"Marinaki AM, Champion M, Kurian MA et al (2004) Adenylosuccinate lyase deficiency\u2014first British case. Nucleosides Nucleotides Nucleic Acids 23:1231\u20131233","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"1503_CR17","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.jpeds.2006.09.027","volume":"150","author":"K Mouchegh","year":"2007","unstructured":"Mouchegh K, Zikanova M, Hoffman GF, Kretzschmar B, Kuhn T et al (2007) Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. J Pediatr 150:57\u201361.e2","journal-title":"J Pediatr"},{"key":"1503_CR18","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/S0387-7604(00)00154-6","volume":"22","author":"M-C Nassogne","year":"2000","unstructured":"Nassogne M-C, Henrot B, Aubert G, Bonnier C, Marie S et al (2000) Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly. Brain Dev 22:383\u2013386","journal-title":"Brain Dev"},{"key":"1503_CR19","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.ymgme.2006.04.018","volume":"89","author":"EK Spiegel","year":"2006","unstructured":"Spiegel EK, Colman RF, Patterson D (2006) Adenylosuccinate lyase deficiency. Mol Genet Metab 89:19\u201331","journal-title":"Mol Genet Metab"},{"key":"1503_CR20","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1097\/00004583-200003000-00007","volume":"39","author":"SL Stathis","year":"2000","unstructured":"Stathis SL, Cowley DM, Broe D (2000) Autism and adenylosuccinase deficiency. J Am Acad Child Adolesc Psychiatry 39:274\u2013275","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"key":"1503_CR21","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/S0887-8994(97)89979-1","volume":"16","author":"D Valik","year":"1997","unstructured":"Valik D, Miner PT, Jones JD (1997) First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia. Pediatr Neurol 16:252\u2013255","journal-title":"Pediatr Neurol"},{"key":"1503_CR22","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1055\/s-2007-973536","volume":"29","author":"FA Bergh Van den","year":"1998","unstructured":"Van den Bergh FA, Bosschaart AN, Hageman G et al (1998) Adenylosuccinase deficiency with neonatal onset, severe epileptic seizures and sudden death. Neuropediatrics 29:51\u201353","journal-title":"Neuropediatrics"},{"key":"1503_CR23","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1023\/A:1005304722259","volume":"20","author":"G Berghe Van den","year":"1997","unstructured":"Van den Berghe G, Vincent MF, Jaeken J (1997) Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency. J Inherit Metab Dis 20:193\u2013202","journal-title":"J Inherit Metab Dis"},{"key":"1503_CR24","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.conb.2004.01.003","volume":"14","author":"CG Woods","year":"2004","unstructured":"Woods CG (2004) Human microcephaly. Curr Opin Neurobiol 14:112\u2013117","journal-title":"Curr Opin Neurobiol"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-011-1503-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00431-011-1503-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-011-1503-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T18:22:11Z","timestamp":1559067731000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00431-011-1503-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5,31]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["1503"],"URL":"https:\/\/doi.org\/10.1007\/s00431-011-1503-9","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,5,31]]}}}