{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T03:14:15Z","timestamp":1790824455320,"version":"4.1.0"},"reference-count":35,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"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","jpeds.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2007,1]]},"DOI":"10.1016\/j.jpeds.2006.09.027","type":"journal-article","created":{"date-parts":[[2006,12,22]],"date-time":"2006-12-22T17:35:16Z","timestamp":1166808916000},"page":"57-61.e2","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":68,"title":["Lethal Fetal and Early Neonatal Presentation of Adenylosuccinate Lyase Deficiency: Observation of 6 Patients in 4 Families"],"prefix":"10.1016","volume":"150","author":[{"given":"Katharina","family":"Mouchegh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Zik\u00e1nov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg F.","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benno","family":"Kretzschmar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"K\u00fchn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Mildenberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gisela","family":"Stoltenburg-Didinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakub","family":"Krijt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenka","family":"Dvor\u0306\u00e1kov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom\u00e1\u0161","family":"Honz\u00edk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiri","family":"Zeman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislav","family":"Kmoch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainer","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2006.09.027_bib1","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1007\/BF00445919","article-title":"Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis","volume":"148","author":"Jaeken","year":"1998","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jpeds.2006.09.027_bib2","first-page":"301","article-title":"Neurologic aspects of adenylosuccinate lyase deficiency","volume":"16","author":"Ciardo","year":"2001","journal-title":"J Child Neurol"},{"key":"10.1016\/j.jpeds.2006.09.027_bib3","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/ng0492-59","article-title":"A mutation in adenylosuccinate lyase associated with mental retardation and autistic features","volume":"1","author":"Stone","year":"1992","journal-title":"Nat Genet"},{"key":"10.1016\/j.jpeds.2006.09.027_bib4","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1159\/000133575","article-title":"Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1\u2192q13.2","volume":"64","author":"Fon","year":"1993","journal-title":"Cytogenet Cell Genet"},{"key":"10.1016\/j.jpeds.2006.09.027_bib5","doi-asserted-by":"crossref","first-page":"1501","DOI":"10.1093\/hmg\/9.10.1501","article-title":"Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients","volume":"9","author":"Kmoch","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jpeds.2006.09.027_bib6","first-page":"1058","article-title":"An infantile autistic syndrome characterized by the presence of succinylpurines in body fluids","volume":"2","author":"Jaeken","year":"1984","journal-title":"Lancet"},{"key":"10.1016\/j.jpeds.2006.09.027_bib7","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1007\/BF00710291","article-title":"Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl","volume":"16","author":"van den Bergh","year":"1993","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jpeds.2006.09.027_bib8","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1007\/BF02436005","article-title":"Adenylosuccinase deficiency: a patient with impaired erythrocyte activity and anomalous response to intravenous fructose","volume":"18","author":"Salerno","year":"1995","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jpeds.2006.09.027_bib9","doi-asserted-by":"crossref","first-page":"6067","DOI":"10.1023\/A:1005323512982","article-title":"Adenylosuccinase deficiency presenting with epilepsy in early infancy","volume":"20","author":"Maaswinkel-Mooij","year":"1997","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jpeds.2006.09.027_bib10","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1023\/A:1005361408031","article-title":"Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients","volume":"20","author":"Sebesta","year":"1997","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jpeds.2006.09.027_bib11","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1055\/s-2007-973536","article-title":"Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death","volume":"29","author":"van den Bergh","year":"1998","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.jpeds.2006.09.027_bib12","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/978-1-4615-5381-6_64","article-title":"Genetic basis of adenylosuccinase deficiency in an Italian patient","volume":"431","author":"Verginelli","year":"1998","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.jpeds.2006.09.027_bib13","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/(SICI)1098-1004(1999)13:3<197::AID-HUMU3>3.0.CO;2-D","article-title":"Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence","volume":"13","author":"Marie","year":"1999","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jpeds.2006.09.027_bib14","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1053\/ejpn.1999.0172","article-title":"Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features","volume":"3","author":"K\u00f6hler","year":"1999","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.jpeds.2006.09.027_bib15","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/S0387-7604(00)00154-6","article-title":"Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly","volume":"22","author":"Nassogne","year":"2000","journal-title":"Brain Dev"},{"key":"10.1016\/j.jpeds.2006.09.027_bib16","doi-asserted-by":"crossref","first-page":"2159","DOI":"10.1093\/hmg\/9.14.2159","article-title":"Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency","volume":"9","author":"Race","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jpeds.2006.09.027_bib17","series-title":"The Metabolic and molecular bases of inherited disease","first-page":"2653","article-title":"Adenylosuccinate lyase deficiency","author":"Van den Berghe","year":"2001"},{"key":"10.1016\/j.jpeds.2006.09.027_bib18","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1055\/s-2002-34493","article-title":"Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients","volume":"33","author":"Castro","year":"2000","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.jpeds.2006.09.027_bib19","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1136\/jmg.39.6.440","article-title":"Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?","volume":"39","author":"Holder-Espinasse","year":"2002","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2006.09.027_bib20","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1086\/341036","article-title":"Mutation of a nuclear respiratory factor 2 binding site in the 5\u2019 untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency","volume":"71","author":"Marie","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpeds.2006.09.027_bib21","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1081\/NCN-200027494","article-title":"Adenylosuccinate lyase deficiency: first British case","volume":"23","author":"Marinaki","year":"2004","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"10.1016\/j.jpeds.2006.09.027_bib22","doi-asserted-by":"crossref","first-page":"53789","DOI":"10.1074\/jbc.M409974200","article-title":"Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL","volume":"279","author":"Sivendran","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jpeds.2006.09.027_bib23","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1002\/ajmg.a.20176","article-title":"Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients","volume":"120","author":"Edery","year":"2003","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpeds.2006.09.027_bib24","series-title":"Developmental neuropathology","first-page":"31","author":"Friede","year":"1989"},{"key":"10.1016\/j.jpeds.2006.09.027_bib25","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/BF00739967","article-title":"Neuropathological findings in a case of combined deficiency of sulphite oxidase and xanthine dehydrogenase","volume":"408","author":"Barth","year":"1985","journal-title":"Virchows Arch A"},{"key":"10.1016\/j.jpeds.2006.09.027_bib26","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1007\/BF00710072","article-title":"Anatomopathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor","volume":"405","author":"Roth","year":"1985","journal-title":"Virchows Arch A"},{"key":"10.1016\/j.jpeds.2006.09.027_bib27","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1055\/s-2008-1071531","article-title":"Molybdenum cofactor deficiency: an easily missed cause of neonatal convulsions","volume":"24","author":"Slot","year":"1993","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.jpeds.2006.09.027_bib28","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1055\/s-2007-979720","article-title":"Molybdenum cofactor deficiency: CT and MR findings","volume":"26","author":"Schuierer","year":"1995","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.jpeds.2006.09.027_bib29","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1016\/S0387-7604(01)00316-3","article-title":"Molybdenum cofactor deficiency associated with Dandy-Walker complex","volume":"23","author":"Arslanoglu","year":"2001","journal-title":"Brain Dev"},{"key":"10.1016\/j.jpeds.2006.09.027_bib30","first-page":"264","article-title":"Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy","volume":"16","author":"Topcu","year":"2001","journal-title":"J Child Neurol"},{"key":"10.1016\/j.jpeds.2006.09.027_bib31","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/S0969-2126(00)00092-7","article-title":"The structure of adenylosuccinate lyase, an enzyme with dual activity in the de novo purine biosynthetic pathway","volume":"8","author":"Toth","year":"2000","journal-title":"Structure Fold Des"},{"key":"10.1016\/j.jpeds.2006.09.027_bib32","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1021\/bi982299s","article-title":"His68 and His141 are critical contributors to the intersubunit catalytic site of adenylosuccinate lyase of Bacillus subtilis","volume":"38","author":"Lee","year":"1999","journal-title":"Biochemistry"},{"key":"10.1016\/j.jpeds.2006.09.027_bib33","doi-asserted-by":"crossref","first-page":"2217","DOI":"10.1021\/bi011998t","article-title":"Three subunits contribute amino acids to the active site of tetrameric adenylosuccinate lyase: Lys268 and Glu275 are required","volume":"41","author":"Brosius","year":"2002","journal-title":"Biochemistry"},{"key":"10.1016\/j.jpeds.2006.09.027_bib34","doi-asserted-by":"crossref","first-page":"13336","DOI":"10.1021\/bi001488j","article-title":"A key role in catalysis for His89 of adenylosuccinate lyase of Bacillus subtilis","volume":"39","author":"Brosius","year":"2000","journal-title":"Biochemistry"},{"key":"10.1016\/j.jpeds.2006.09.027_bib35","doi-asserted-by":"crossref","first-page":"7391","DOI":"10.1021\/bi0494774","article-title":"Gln212, Asn270, and Arg301 are critical for catalysis by adenylosuccinate lyase from Bacillus subtilis","volume":"43","author":"Segall","year":"2004","journal-title":"Biochemistry"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347606009097?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347606009097?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T22:28:18Z","timestamp":1762208898000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347606009097"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,1]]},"references-count":35,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,1]]}},"alternative-id":["S0022347606009097"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2006.09.027","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[2007,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Lethal Fetal and Early Neonatal Presentation of Adenylosuccinate Lyase Deficiency: Observation of 6 Patients in 4 Families","name":"articletitle","label":"Article Title"},{"value":"The Journal of Pediatrics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2006.09.027","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}