{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T17:40:27Z","timestamp":1780422027982,"version":"3.54.1"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2017,3,27]],"date-time":"2017-03-27T00:00:00Z","timestamp":1490572800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Metab Brain Dis"],"published-print":{"date-parts":[[2017,8]]},"DOI":"10.1007\/s11011-017-9995-2","type":"journal-article","created":{"date-parts":[[2017,3,27]],"date-time":"2017-03-27T19:51:37Z","timestamp":1490644297000},"page":"1081-1087","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Novel phenotypes of pyridox(am)ine-5\u2019-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patients"],"prefix":"10.1007","volume":"32","author":[{"given":"Jiao","family":"Xue","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingzhi","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuehua","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhixian","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,3,27]]},"reference":[{"issue":"2","key":"9995_CR1","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1136\/adc.2006.115162","volume":"93","author":"S Bagci","year":"2008","unstructured":"Bagci S, Zschocke J, Hoffmann GF et al (2008) Pyridoxal phosphate-dependent neonatal epileptic encephalopathy. Arch Dis Child Fetal Neonatal Ed 93(2):151\u2013152","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"9995_CR2","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/8904_2015_456","volume":"25","author":"D Coman","year":"2016","unstructured":"Coman D, Lewindon P, Clayton P et al (2016) PNPO deficiency and cirrhosis: expanding the clinical phenotype? JIMD Rep. 25:71\u201375","journal-title":"JIMD Rep."},{"issue":"9","key":"9995_CR3","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1177\/0883073814550829","volume":"30","author":"A Guerin","year":"2015","unstructured":"Guerin A, Aziz AS, Mutch C (2015) Pyridox(am)ine-5-phosphate oxidase deficiency treatable cause of neonatal epileptic encephalopathy with burst suppression: case report and review of the literature. J Child Neurol 30(9):1218\u20131225","journal-title":"J Child Neurol"},{"key":"9995_CR4","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/8904_2015_482","volume":"26","author":"J Hatch","year":"2016","unstructured":"Hatch J, Coman D, Clayton P et al (2016) Normal neurodevelopmental outcomes in PNPO deficiency: a case series and literature review. JIMD Rep 26:91\u201397","journal-title":"JIMD Rep"},{"issue":"1","key":"9995_CR5","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1007\/s10545-006-0508-4","volume":"30","author":"GF Hoffmann","year":"2007","unstructured":"Hoffmann GF, Schmitt B, Windfuhr M et al (2007) Pyridoxal 5\u2032-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis 30(1):96\u201399","journal-title":"J Inherit Metab Dis"},{"issue":"4","key":"9995_CR6","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/j.ymgme.2008.04.008","volume":"94","author":"M Khayat","year":"2008","unstructured":"Khayat M, Korman SH, Frankel P et al (2008) PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism. Mol Genet Metab 94(4):431\u2013434","journal-title":"Mol Genet Metab"},{"issue":"2","key":"9995_CR7","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/S0887-8994(01)00357-5","volume":"26","author":"MF Kuo","year":"2002","unstructured":"Kuo MF, Wang HS (2002) Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine. Pediatr Neurol 26(2):146\u2013147","journal-title":"Pediatr Neurol"},{"key":"9995_CR8","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1007\/8904_2015_413","volume":"22","author":"A Levtova","year":"2015","unstructured":"Levtova A, Camuzeaux S, Laberge AM et al (2015) Normal cerebrospinal fluid Pyridoxal 5\u2032-phosphate level in a PNPO-deficient patient with neonatal-onset epileptic encephalopathy. JIMD Rep 22:67\u201375","journal-title":"JIMD Rep"},{"issue":"2","key":"9995_CR9","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1093\/jn\/129.2.325","volume":"129","author":"DB McCormick","year":"1999","unstructured":"McCormick DB, Chen H (1999) Update on interconversions of vitamin B-6 with its coenzyme. J Nutr 129(2):325\u2013327","journal-title":"J Nutr"},{"issue":"8","key":"9995_CR10","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1093\/hmg\/ddi120","volume":"14","author":"PB Mills","year":"2005","unstructured":"Mills PB, Surtees RA, Champion MP et al (2005) Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5\u2032-phosphate oxidase. Hum Mol Genet 14(8):1077\u20131086","journal-title":"Hum Mol Genet"},{"issue":"5","key":"9995_CR11","doi-asserted-by":"crossref","first-page":"1350","DOI":"10.1093\/brain\/awu051","volume":"137","author":"PB Mills","year":"2014","unstructured":"Mills PB, Camuzeaux SS, Footitt EJ et al (2014) Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain 137(5):1350\u20131360","journal-title":"Brain"},{"issue":"16","key":"9995_CR12","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.1212\/WNL.0000000000000344","volume":"82","author":"B Plecko","year":"2014","unstructured":"Plecko B, Paul K, Mills P et al (2014) Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology 82(16):1425\u20131433","journal-title":"Neurology"},{"issue":"2","key":"9995_CR13","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.ymgme.2007.10.003","volume":"93","author":"A Ruiz","year":"2008","unstructured":"Ruiz A, Garc\u00eda-Villoria J, Ormazabal A et al (2008) A new fatal case of pyridox(am)ine 5\u2032-phosphate oxidase (PNPO) deficiency. Mol Genet Metab 93(2):216\u2013218","journal-title":"Mol Genet Metab"},{"key":"9995_CR14","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.ymgme.2011.05.014","volume":"104","author":"S Stockler","year":"2011","unstructured":"Stockler S, Plecko B, Gospe SM Jr et al (2011) Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab 104:48\u201360","journal-title":"Mol Genet Metab"},{"key":"9995_CR15","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1007\/8904_2014_338","volume":"17","author":"A Sudarsanam","year":"2014","unstructured":"Sudarsanam A, Singh H, Wilcken B et al (2014) Cirrhosis associated with pyridoxal 5\u2032-phosphate treatment of pyridoxamine 5\u2032-phosphate oxidase deficiency. JIMD Rep. 17:67\u201370","journal-title":"JIMD Rep."},{"issue":"3","key":"9995_CR16","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/j.yebeh.2010.12.046","volume":"20","author":"A Veerapandiyan","year":"2011","unstructured":"Veerapandiyan A, Winchester SA, Gallentine WB et al (2011) Electroencephalographic and seizure manifestations of pyridoxal 5\u2032-phosphate-dependent epilepsy. Epilepsy Behav 20(3):494\u2013501","journal-title":"Epilepsy Behav"},{"issue":"4","key":"9995_CR17","doi-asserted-by":"crossref","first-page":"14130","DOI":"10.4238\/2015.October.29.34","volume":"14","author":"M Veeravigrom","year":"2015","unstructured":"Veeravigrom M, Damrongphol P, Ittiwut R et al (2015) Pyridoxal 5\u2032-phosphate responsive epilepsy with novel mutations in the PNPO gene: a case report. Genet Mol Res 14(4):14130\u201314135","journal-title":"Genet Mol Res"},{"issue":"5","key":"9995_CR18","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1111\/dmcn.12346","volume":"56","author":"TL Ware","year":"2014","unstructured":"Ware TL, Earl J, Salomons GS et al (2014) Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment. Dev Med Child Neurol 56(5):498\u2013502","journal-title":"Dev Med Child Neurol"},{"key":"9995_CR19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.eplepsyres.2015.10.002","volume":"118","author":"J Xue","year":"2015","unstructured":"Xue J, Qian P, Li H et al (2015) A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>a mutation in Chinese patients. Epilepsy Res 118:1\u20134","journal-title":"Epilepsy Res"},{"issue":"9","key":"9995_CR20","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1016\/j.braindev.2016.04.008","volume":"38","author":"J Xue","year":"2016","unstructured":"Xue J, Li H, Zhang Y et al (2016) Clinical and genetic analysis of two Chinese infants with Mabry syndrome. Brain Dev 38(9):807\u2013818","journal-title":"Brain Dev"}],"container-title":["Metabolic Brain Disease"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11011-017-9995-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11011-017-9995-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11011-017-9995-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,17]],"date-time":"2025-06-17T18:01:17Z","timestamp":1750183277000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11011-017-9995-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,27]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["9995"],"URL":"https:\/\/doi.org\/10.1007\/s11011-017-9995-2","relation":{},"ISSN":["0885-7490","1573-7365"],"issn-type":[{"value":"0885-7490","type":"print"},{"value":"1573-7365","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,27]]}}}