{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:20:48Z","timestamp":1791476448193,"version":"4.3.4"},"reference-count":29,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2022,6]]},"DOI":"10.1016\/j.cca.2022.04.989","type":"journal-article","created":{"date-parts":[[2022,4,22]],"date-time":"2022-04-22T12:09:53Z","timestamp":1650629393000},"page":"331-336","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"special_numbering":"C","title":["An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency"],"prefix":"10.1016","volume":"531","author":[{"given":"Ling","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiyu","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Dong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Handuo","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiran","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guomei","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaixian","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoli","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changlian","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shihong","family":"Cui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenchen","family":"Ren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"12","key":"10.1016\/j.cca.2022.04.989_b0005","doi-asserted-by":"crossref","first-page":"2071","DOI":"10.1038\/s41436-020-0919-x","article-title":"Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort","volume":"22","author":"Alharby","year":"2020","journal-title":"GENET MED"},{"key":"10.1016\/j.cca.2022.04.989_b0010","unstructured":"E.A. Alfadhel M, Asparagine Synthetase Deficiency, (2018)."},{"key":"10.1016\/j.cca.2022.04.989_b0015","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1159\/000133685","article-title":"Refined localization of the asparagine synthetase gene (ASNS) to chromosome 7, region q21.3, and characterization of the somatic cell hybrid line 4AF\/106\/KO15","volume":"66","author":"Heng","year":"1994","journal-title":"Cytogenet Cell Genet"},{"issue":"3","key":"10.1016\/j.cca.2022.04.989_b0020","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/0888-7543(89)90329-7","article-title":"Molecular structure of the human asparagine synthetase gene","volume":"4","author":"Zhang","year":"1989","journal-title":"Genomics"},{"issue":"33","key":"10.1016\/j.cca.2022.04.989_b0025","doi-asserted-by":"crossref","first-page":"19475","DOI":"10.1016\/S0021-9258(19)47138-X","article-title":"The N-terminal cysteine of human asparagine synthetase is essential for glutamine-dependent activity","volume":"264","author":"Van Heeke","year":"1989","journal-title":"J BIOL CHEM"},{"key":"10.1016\/j.cca.2022.04.989_b0030","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1146\/annurev.biochem.75.103004.142520","article-title":"Asparagine synthetase chemotherapy","volume":"75","author":"Richards","year":"2006","journal-title":"Annu Rev Biochem"},{"key":"10.1016\/j.cca.2022.04.989_b0035","doi-asserted-by":"crossref","first-page":"19952","DOI":"10.1074\/jbc.R117.819060","article-title":"Asparagine synthetase: Function, structure, and role in disease","volume":"292","author":"Lomelino","year":"2017","journal-title":"J BIOL CHEM"},{"key":"10.1016\/j.cca.2022.04.989_b0040","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/j.neuron.2013.08.013","article-title":"Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy","volume":"80","author":"Ruzzo","year":"2013","journal-title":"Neuron"},{"key":"10.1016\/j.cca.2022.04.989_b0045","first-page":"55","article-title":"One case report of asparagine synthetase deficiency and literature review, Journal of","volume":"39","author":"Suo","year":"2021","journal-title":"Clin. Pediatr."},{"issue":"6","key":"10.1016\/j.cca.2022.04.989_b0050","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1235","article-title":"A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency","volume":"8","author":"Wang","year":"2020","journal-title":"Mol Genet Genomic Med"},{"issue":"22","key":"10.1016\/j.cca.2022.04.989_b0055","doi-asserted-by":"crossref","first-page":"e20507","DOI":"10.1097\/MD.0000000000020507","article-title":"Congenital microcephaly with early onset epileptic encephalopathy caused by ASNS gene mutation: A case report","volume":"99","author":"Chen","year":"2020","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.cca.2022.04.989_b0060","doi-asserted-by":"crossref","DOI":"10.1016\/j.scr.2019.101583","article-title":"Generation of four induced pluripotent stem cell lines, GZWWTi001-A, GZWTZi001-A, GZWXYi001-A, and GZWXDi001-A, derived from peripheral blood mononuclear cells from a family with asparagine synthetase deficiency","volume":"41","author":"Yingjun","year":"2019","journal-title":"STEM CELL RES"},{"key":"10.1016\/j.cca.2022.04.989_b0065","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2013-201554","article-title":"The CARE guidelines: consensus-based clinical case reporting guideline development","volume":"2013","author":"Gagnier","year":"2013","journal-title":"BMJ Case Rep"},{"key":"10.1016\/j.cca.2022.04.989_b0070","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"GENET MED"},{"issue":"18","key":"10.1016\/j.cca.2022.04.989_b0075","doi-asserted-by":"crossref","first-page":"1903","DOI":"10.4155\/bio-2016-0111","article-title":"LC-MS\/MS-based quantification of kynurenine metabolites, tryptophan, monoamines and neopterin in plasma, cerebrospinal fluid and brain","volume":"8","author":"Fuertig","year":"2016","journal-title":"BIOANALYSIS"},{"key":"10.1016\/j.cca.2022.04.989_b0080","doi-asserted-by":"crossref","first-page":"113018","DOI":"10.1016\/j.jpba.2019.113018","article-title":"Development, validation and application of LC-MS\/MS method for quantification of amino acids, kynurenine and serotonin in human plasma","volume":"180","author":"Vir\u00e1g","year":"2020","journal-title":"J Pharm Biomed Anal"},{"issue":"2","key":"10.1016\/j.cca.2022.04.989_b0085","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1007\/s11306-013-0582-1","article-title":"Validation of a dual LC-HRMS platform for clinical metabolic diagnosis in serum, bridging quantitative analysis and untargeted metabolomics","volume":"10","author":"Gertsman","year":"2014","journal-title":"Metabolomics"},{"issue":"3","key":"10.1016\/j.cca.2022.04.989_b0090","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.ymgme.2015.08.007","article-title":"Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine","volume":"116","author":"Palmer","year":"2015","journal-title":"MOL GENET METAB"},{"issue":"5","key":"10.1016\/j.cca.2022.04.989_b0095","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1111\/cga.12275","article-title":"Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature","volume":"58","author":"Galada","year":"2018","journal-title":"Congenit Anom (Kyoto)"},{"key":"10.1016\/j.cca.2022.04.989_b0100","first-page":"173","article-title":"Standard growth values and standard growth curves of the weight, length\/height, and head circumference of Chinese children under the age of seven","author":"Li","year":"2009","journal-title":"Chinese Journal of Pediatrics"},{"key":"10.1016\/j.cca.2022.04.989_b0105","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1186\/s12883-016-0633-0","article-title":"Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report","volume":"16","author":"Seidahmed","year":"2016","journal-title":"BMC NEUROL"},{"key":"10.1016\/j.cca.2022.04.989_b0110","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1055\/s-0036-1586222","article-title":"Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy","volume":"47","author":"Gataullina","year":"2016","journal-title":"NEUROPEDIATRICS"},{"key":"10.1016\/j.cca.2022.04.989_b0115","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.braindev.2016.09.010","article-title":"The first report of Japanese patients with asparagine synthetase deficiency","volume":"39","author":"Yamamoto","year":"2017","journal-title":"Brain Dev"},{"key":"10.1016\/j.cca.2022.04.989_b0120","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/j.ymgme.2017.12.433","article-title":"Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency","volume":"123","author":"Sacharow","year":"2018","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.cca.2022.04.989_b0125","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/s41439-019-0055-9","article-title":"Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature","volume":"6","author":"Sprute","year":"2019","journal-title":"Hum Genome Var"},{"key":"10.1016\/j.cca.2022.04.989_b0130","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1684\/epd.2019.1100","article-title":"Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report","volume":"21","author":"Costa","year":"2019","journal-title":"Epileptic Disord"},{"key":"10.1016\/j.cca.2022.04.989_b0135","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1055\/s-0040-1718917","article-title":"Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency","volume":"52","author":"Abdel-Salam","year":"2021","journal-title":"NEUROPEDIATRICS"},{"key":"10.1016\/j.cca.2022.04.989_b0140","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.pediatrneurol.2016.01.024","article-title":"Worsening of Seizures After Asparagine Supplementation in a Child with Asparagine Synthetase Deficiency","volume":"58","author":"Alrifai","year":"2016","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.cca.2022.04.989_b0145","doi-asserted-by":"crossref","first-page":"218S","DOI":"10.1093\/jn\/136.1.218S","article-title":"Structure of the blood-brain barrier and its role in the transport of amino acids","volume":"136","author":"Hawkins","year":"2006","journal-title":"J NUTR"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898122011184?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898122011184?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T15:06:54Z","timestamp":1757862414000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898122011184"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6]]},"references-count":29,"alternative-id":["S0009898122011184"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2022.04.989","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2022,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2022.04.989","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}