{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T19:17:48Z","timestamp":1783192668293,"version":"3.54.6"},"reference-count":31,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2016,9,1]],"date-time":"2016-09-01T00:00:00Z","timestamp":1472688000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","ejpn-journal.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2016,9]]},"DOI":"10.1016\/j.ejpn.2016.05.011","type":"journal-article","created":{"date-parts":[[2016,5,30]],"date-time":"2016-05-30T22:17:38Z","timestamp":1464646658000},"page":"714-722","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":43,"title":["Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients"],"prefix":"10.1016","volume":"20","author":[{"given":"Maha S.","family":"Zaki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laila","family":"Selim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hala T.","family":"EL-Bassyouni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud Y.","family":"Issa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iman","family":"Mahmoud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0406-8251","authenticated-orcid":false,"given":"Samira","family":"Ismail","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariane","family":"Girgis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelrahim A.","family":"Sadek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph G.","family":"Gleeson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed S.","family":"Abdel Hamid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejpn.2016.05.011_bib1","doi-asserted-by":"crossref","first-page":"e1005","DOI":"10.1542\/peds.2011-3330","article-title":"Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP","volume":"130","author":"Hitzert","year":"2012","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejpn.2016.05.011_bib2","first-page":"1103","article-title":"Choice of anesthesia in molybdenum cofactor deficiency: a case report","volume":"19","author":"Alkan","year":"2014","journal-title":"J Res Med Sci"},{"key":"10.1016\/j.ejpn.2016.05.011_bib3","doi-asserted-by":"crossref","first-page":"1955","DOI":"10.1016\/S0140-6736(15)00124-5","article-title":"Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study","volume":"386","author":"Schwahn","year":"2015","journal-title":"Lancet"},{"key":"10.1016\/j.ejpn.2016.05.011_bib4","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1146\/annurev.arplant.57.032905.105437","article-title":"Molybdenum cofactor biosynthesis and molybdenum enzymes","volume":"57","author":"Schwarz","year":"2006","journal-title":"Annu Rev Plant Biol"},{"key":"10.1016\/j.ejpn.2016.05.011_bib5","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.cca.2012.08.011","volume":"414","author":"Nakamura","year":"2012","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.ejpn.2016.05.011_bib6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ejpn.2012.10.003","article-title":"Molybdenum cofactor deficiency: review of 12 cases (MoCD and review)","volume":"17","author":"Bayram","year":"2013","journal-title":"Eur J\u00a0Paediatr Neurol"},{"key":"10.1016\/j.ejpn.2016.05.011_bib7","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1007\/s00247-007-0558-2","article-title":"Cranial ultrasound and chronological changes in molybdenum cofactor deficiency","volume":"37","author":"Serrano","year":"2007","journal-title":"Pediatr Radiol"},{"key":"10.1016\/j.ejpn.2016.05.011_bib8","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.pediatrneurol.2012.04.013","article-title":"Molybdenum cofactor deficiency mimics cerebral palsy: differentiating factors for diagnosis","volume":"47","author":"Kikuchi","year":"2012","journal-title":"Pediatr Neurol"},{"issue":"Suppl. 2","key":"10.1016\/j.ejpn.2016.05.011_bib9","first-page":"5","article-title":"Newborn with neonatal form of molybdenum cofactor deficiency \u2013 the first patient in the Slovak Republic","volume":"31","author":"Brucknerova","year":"2010","journal-title":"Neuro Endocrinol Lett"},{"key":"10.1016\/j.ejpn.2016.05.011_bib10","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/j.pediatrneurol.2011.06.006","article-title":"Clinical neuroimaging features and outcome in molybdenum cofactor deficiency","volume":"45","author":"Vijayakumar","year":"2011","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.ejpn.2016.05.011_bib11","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1086\/511281","article-title":"Long-term rescue of a lethal inherited disease by adeno-associated virus-mediated gene transfer in a mouse model of molybdenum-cofactor deficiency","volume":"80","author":"Kugler","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejpn.2016.05.011_bib12","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1002\/humu.21390","article-title":"Molybdenum cofactor deficiency: mutations in GPHN, MOCS1, and MOCS2","volume":"32","author":"Reiss","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ejpn.2016.05.011_bib13","first-page":"113","article-title":"Sulfite oxidase deficiency in a newborn","volume":"97","author":"Westerlinck","year":"2014","journal-title":"JBR-BTR"},{"key":"10.1016\/j.ejpn.2016.05.011_bib14","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/ajmg.a.30796","article-title":"Total truncation of the molybdopterin\/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency","volume":"136","author":"Seidahmed","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ejpn.2016.05.011_bib15","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/bmc.439","article-title":"Determination of urinary S-sulphocysteine, xanthine and hypothanxine by liquid chromatography-electrospray tandem mass spectrometry","volume":"19","author":"Rashed","year":"2005","journal-title":"Biomed Chromatogr"},{"key":"10.1016\/j.ejpn.2016.05.011_bib16","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1007\/s004390050884","article-title":"Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A","volume":"103","author":"Reiss","year":"2005","journal-title":"Hum Genet"},{"key":"10.1016\/j.ejpn.2016.05.011_bib17","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.mgene.2014.12.003","volume":"3","author":"Edwards","year":"2015","journal-title":"Meta Gene"},{"key":"10.1016\/j.ejpn.2016.05.011_bib18","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1542\/peds.2004-1897","article-title":"Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature","volume":"116","author":"Tan","year":"2005","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejpn.2016.05.011_bib19","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1038\/gim.2015.12","article-title":"Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency","volume":"17","author":"Mechler","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.ejpn.2016.05.011_bib20","doi-asserted-by":"crossref","first-page":"e1249","DOI":"10.1542\/peds.2009-2192","article-title":"Successful treatment of molybdenum cofactor deficiency type A with cPMP","volume":"125","author":"Veldman","year":"2010","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejpn.2016.05.011_bib21","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1007\/s10545-009-1151-7","article-title":"An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency","volume":"32","author":"Arenas","year":"2009","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ejpn.2016.05.011_bib22","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1001\/jamaneurol.2013.5083","article-title":"Infantile\u00a0spasms and hyperekplexia associated with isolated\u00a0sulfite oxidase deficiency","volume":"71","author":"Holder","year":"2014","journal-title":"JAMA Neurol"},{"key":"10.1016\/j.ejpn.2016.05.011_bib23","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1055\/s-2005-872877","article-title":"Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study","volume":"36","author":"Macaya","year":"2005","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ejpn.2016.05.011_bib24","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1111\/j.1469-8749.2010.03724.x","article-title":"Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency","volume":"52","author":"Gumus","year":"2010","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.ejpn.2016.05.011_bib25","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/j.gene.2013.09.018","article-title":"Disturbance of brain energy and redox homeostasis provoked by sulfite and thiosulfate: potential pathomechanisms involved in the neuropathology of sulfite oxidase deficiency","volume":"531","author":"Grings","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.ejpn.2016.05.011_bib26","doi-asserted-by":"crossref","first-page":"e1716","DOI":"10.1542\/peds.2012-1094","article-title":"Pyridoxine-dependent epilepsy with elevated urinary alpha-amino adipic semialdehyde in molybdenum cofactor deficiency","volume":"130","author":"Struys","year":"2012","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejpn.2016.05.011_bib27","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1111\/j.1469-8749.1998.tb15357.x","article-title":"Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant","volume":"40","author":"Hughes","year":"1998","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.ejpn.2016.05.011_bib28","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1002\/(SICI)1096-8628(19971219)73:3<272::AID-AJMG8>3.0.CO;2-U","article-title":"Spherophakia associated with molybdenum cofactor deficiency","volume":"73","author":"Parini","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejpn.2016.05.011_bib29","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.pediatrneurol.2014.03.010","article-title":"Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutaion","volume":"51","author":"Chen","year":"2014","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.ejpn.2016.05.011_bib30","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1177\/0883073811401399","article-title":"Clinical and imaging observations in isolated sulfite oxidase deficiency","volume":"26","author":"Bindu","year":"2011","journal-title":"J Child Neurol"},{"key":"10.1016\/j.ejpn.2016.05.011_bib31","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/8904_2011_89","article-title":"Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulphocysteine in urine and serum","volume":"5","author":"Belaidi","year":"2012","journal-title":"JIMD Rep"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379816300654?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379816300654?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,11]],"date-time":"2018-09-11T11:20:28Z","timestamp":1536664828000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379816300654"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9]]},"references-count":31,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["S1090379816300654"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2016.05.011","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2016,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients","name":"articletitle","label":"Article Title"},{"value":"European Journal of Paediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejpn.2016.05.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}