{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T08:45:43Z","timestamp":1788425143153,"version":"build-2803163510"},"reference-count":62,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T00:00:00Z","timestamp":1683676800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T00:00:00Z","timestamp":1683676800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271903"],"award-info":[{"award-number":["82271903"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2023,8]]},"DOI":"10.1007\/s00415-023-11760-9","type":"journal-article","created":{"date-parts":[[2023,5,11]],"date-time":"2023-05-11T08:01:35Z","timestamp":1683792095000},"page":"4060-4079","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review"],"prefix":"10.1007","volume":"270","author":[{"given":"Meng-Wen","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chu-Jun","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0053-3451","authenticated-orcid":false,"given":"Zai-Qiang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,5,10]]},"reference":[{"issue":"2","key":"11760_CR1","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1016\/j.ajhg.2020.06.006","volume":"107","author":"A Hillert","year":"2020","unstructured":"Hillert A, Anikster Y, Belanger-Quintana A et al (2020) The genetic landscape and epidemiology of phenylketonuria. Am J Hum Genet 107(2):234\u2013250. https:\/\/doi.org\/10.1016\/j.ajhg.2020.06.006","journal-title":"Am J Hum Genet"},{"issue":"1","key":"11760_CR2","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1038\/s41572-021-00267-0","volume":"7","author":"FJ van Spronsen","year":"2021","unstructured":"van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM (2021) Phenylketonuria. Nat Rev Dis Primers 7(1):36. https:\/\/doi.org\/10.1038\/s41572-021-00267-0","journal-title":"Nat Rev Dis Primers"},{"issue":"1","key":"11760_CR3","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1023\/a:1005607115309","volume":"23","author":"J Weglage","year":"2000","unstructured":"Weglage J, Oberwittler C, Marquardt T, Schellscheidt J, von Teeffelen-Heithoff A, Koch G, Gerding H (2000) Neurological deterioration in adult phenylketonuria. J Inherit Metab Dis 23(1):83\u20134. https:\/\/doi.org\/10.1023\/a:1005607115309","journal-title":"J Inherit Metab Dis"},{"issue":"6","key":"11760_CR4","doi-asserted-by":"publisher","first-page":"795","DOI":"10.1136\/jnnp.71.6.795","volume":"71","author":"S Kasim","year":"2001","unstructured":"Kasim S, Moo LR, Zschocke J, Jinnah HA (2001) Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia. J Neurol Neurosurg Psychiatry 71(6):795\u2013797. https:\/\/doi.org\/10.1136\/jnnp.71.6.795","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"2","key":"11760_CR5","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1007\/s00415-009-5358-1","volume":"257","author":"G Jousserand","year":"2010","unstructured":"Jousserand G, Antoine JC, Camdessanch\u00e9 JP (2010) Musty odour, mental retardation, and spastic paraplegia revealing phenylketonuria in adulthood. J Neurol 257(2):302\u2013304. https:\/\/doi.org\/10.1007\/s00415-009-5358-1","journal-title":"J Neurol"},{"issue":"12","key":"11760_CR6","doi-asserted-by":"publisher","first-page":"2446","DOI":"10.1007\/s00415-014-7492-7","volume":"261","author":"F Rosini","year":"2014","unstructured":"Rosini F, Rufa A, Monti L, Tirelli L, Federico A (2014) Adult-onset phenylketonuria revealed by acute reversible dementia, prosopagnosia and parkinsonism. J Neurol 261(12):2446\u20132448. https:\/\/doi.org\/10.1007\/s00415-014-7492-7","journal-title":"J Neurol"},{"issue":"4","key":"11760_CR7","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1542\/peds.78.4.553","volume":"78","author":"C Holtzman","year":"1986","unstructured":"Holtzman C, Slazyk WE, Cordero JF, Hannon WH (1986) Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism. Pediatrics 78(4):553\u2013558","journal-title":"Pediatrics"},{"key":"11760_CR8","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1016\/j.jpeds.2021.08.070","volume":"239","author":"AMJ van Wegberg","year":"2021","unstructured":"van Wegberg AMJ, Trefz F, Gizewska M, Study Group on Missed PKU and Missed to Follow-Up et al (2021) Undiagnosed phenylketonuria can exist everywhere: results from an international survey. J Pediatr 239:231-234e2. https:\/\/doi.org\/10.1016\/j.jpeds.2021.08.070","journal-title":"J Pediatr"},{"issue":"11","key":"11760_CR9","doi-asserted-by":"publisher","first-page":"2572","DOI":"10.3390\/nu11112572","volume":"11","author":"D van Vliet","year":"2019","unstructured":"van Vliet D, van Wegberg AMJ, Ahring K et al (2019) Untreated PKU patients without intellectual disability: what do they teach us? Nutrients 11(11):2572. https:\/\/doi.org\/10.3390\/nu11112572","journal-title":"Nutrients"},{"issue":"Suppl 1","key":"11760_CR10","doi-asserted-by":"publisher","first-page":"S3","DOI":"10.1016\/j.ymgme.2009.10.005","volume":"99","author":"PJ Anderson","year":"2010","unstructured":"Anderson PJ, Leuzzi V (2010) White matter pathology in phenylketonuria. Mol Genet Metab 99(Suppl 1):S3-9. https:\/\/doi.org\/10.1016\/j.ymgme.2009.10.005","journal-title":"Mol Genet Metab"},{"issue":"2","key":"11760_CR11","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1006\/mgme.1999.2863","volume":"67","author":"R Koch","year":"1999","unstructured":"Koch R, Moseley K, Ning J, Romstad A, Guldberg P, Guttler F (1999) Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria. Mol Genet Metab 67(2):148\u2013155. https:\/\/doi.org\/10.1006\/mgme.1999.2863","journal-title":"Mol Genet Metab"},{"issue":"6","key":"11760_CR12","doi-asserted-by":"publisher","first-page":"794","DOI":"10.1212\/wnl.41.6.794","volume":"41","author":"SB Coker","year":"1991","unstructured":"Coker SB (1991) The diagnosis of childhood neurodegenerative disorders presenting as dementia in adults. Neurology 41(6):794\u2013798. https:\/\/doi.org\/10.1212\/wnl.41.6.794","journal-title":"Neurology"},{"key":"11760_CR13","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1136\/jnnp.69.1.5","volume":"69","author":"RGF Gray","year":"2000","unstructured":"Gray RGF, Preece MA, Green SH et al (2000) Inborn errors of metabolism as a cause of neurological disease in adults: approach to investigation. J Neurol Neurosurg Psychiatry 69:5\u201312. https:\/\/doi.org\/10.1136\/jnnp.69.1.5","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"6","key":"11760_CR14","doi-asserted-by":"publisher","first-page":"142","DOI":"10.3109\/10408363.2013.847896","volume":"50","author":"CM Mak","year":"2013","unstructured":"Mak CM, Lee HC, Chan AY, Lam CW (2013) Inborn errors of metabolism and expanded newborn screening: review and update. Crit Rev Clin Lab Sci 50(6):142\u2013162. https:\/\/doi.org\/10.3109\/10408363.2013.847896","journal-title":"Crit Rev Clin Lab Sci"},{"issue":"8","key":"11760_CR15","doi-asserted-by":"publisher","first-page":"e9801","DOI":"10.1097\/MD.0000000000009801","volume":"97","author":"C Wang","year":"2018","unstructured":"Wang C, Li J (2018) Subacute onset leukodystrophy and visual-spatial disorders revealing phenylketonuria combined with homocysteinmia in adulthood: a case report. Medicine 97(8):e9801. https:\/\/doi.org\/10.1097\/MD.0000000000009801","journal-title":"Medicine"},{"key":"11760_CR16","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/j.clineuro.2018.06.009","volume":"171","author":"Y Liu","year":"2018","unstructured":"Liu Y, Dong Z, Yu S (2018) Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: a case report and literature review. Clin Neurol Neurosurg 171:151\u2013155. https:\/\/doi.org\/10.1016\/j.clineuro.2018.06.009","journal-title":"Clin Neurol Neurosurg"},{"issue":"5","key":"11760_CR17","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1136\/jnnp-2018-319481","volume":"90","author":"DS Lynch","year":"2019","unstructured":"Lynch DS, Wade C, Paiva ARB et al (2019) Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era. J Neurol Neurosurg Psychiatry 90(5):543\u2013554. https:\/\/doi.org\/10.1136\/jnnp-2018-319481","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"20","key":"11760_CR18","doi-asserted-by":"publisher","first-page":"2843","DOI":"10.1093\/bioinformatics\/btu356","volume":"30","author":"H Li","year":"2014","unstructured":"Li H (2014) Toward better understanding of artifacts in variant calling from high-coverage samples. Bioinformatics 30(20):2843\u20132851. https:\/\/doi.org\/10.1093\/bioinformatics\/btu356","journal-title":"Bioinformatics"},{"issue":"9","key":"11760_CR19","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E et al (2010) The genome analysis toolkit: a mapreduce framework for analyzing next-generation DNA sequencing data. Genome Res 20(9):1297\u20131303. https:\/\/doi.org\/10.1101\/gr.107524.110","journal-title":"Genome Res"},{"issue":"16","key":"11760_CR20","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38(16):e164. https:\/\/doi.org\/10.1093\/nar\/gkq603","journal-title":"Nucleic Acids Res"},{"issue":"21","key":"11760_CR21","doi-asserted-by":"publisher","first-page":"2747","DOI":"10.1093\/bioinformatics\/bts526","volume":"28","author":"V Plagnol","year":"2012","unstructured":"Plagnol V, Curtis J, Epstein M et al (2012) A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics 28(21):2747\u20132754. https:\/\/doi.org\/10.1093\/bioinformatics\/bts526","journal-title":"Bioinformatics"},{"issue":"5","key":"11760_CR22","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) 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. Genet Med 17(5):405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"issue":"9","key":"11760_CR23","first-page":"961","volume":"33","author":"K Ishimaru","year":"1993","unstructured":"Ishimaru K, Tamasawa N, Baba M, Matsunaga M, Takebe K (1993) Phenylketonuria with adult-onset neurological manifestation. Rinsho Shinkeigaku 33(9):961\u20135 (Abstract)","journal-title":"Rinsho Shinkeigaku"},{"issue":"4","key":"11760_CR24","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1016\/j.neurol.2013.09.012","volume":"170","author":"L Daelman","year":"2014","unstructured":"Daelman L, Sedel F, Tourbah A (2014) Progressive neuropsychiatric manifestations of phenylketonuria in adulthood. Rev Neurol (Paris) 170(4):280\u2013287. https:\/\/doi.org\/10.1016\/j.neurol.2013.09.012","journal-title":"Rev Neurol (Paris)"},{"issue":"Pt 3","key":"11760_CR25","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1177\/0004563213503818","volume":"51","author":"D Narayanan","year":"2014","unstructured":"Narayanan D, Barski R, Henderson MJ et al (2014) Delayed diagnosis of phenylketonuria\u2014a case report of two siblings. Ann Clin Biochem 51(Pt 3):406\u2013408. https:\/\/doi.org\/10.1177\/0004563213503818","journal-title":"Ann Clin Biochem"},{"issue":"10","key":"11760_CR26","doi-asserted-by":"publisher","first-page":"1040","DOI":"10.3389\/fneur.2019.01040","volume":"4","author":"S Chen","year":"2019","unstructured":"Chen S, Zhu M, Hao Y, Feng J, Zhang Y (2019) Effect of delayed diagnosis of phenylketonuria with imaging findings of bilateral diffuse symmetric white matter lesions: a case report and literature review. Front Neurol 4(10):1040. https:\/\/doi.org\/10.3389\/fneur.2019.01040","journal-title":"Front Neurol"},{"issue":"3","key":"11760_CR27","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1080\/13554794.2016.1142567","volume":"22","author":"Z Tufekcioglu","year":"2016","unstructured":"Tufekcioglu Z, Cakar A, Bilgic B, Hanagasi H, Gurvit H, Emre M (2016) Adult-onset phenylketonuria with rapidly progressive dementia and Parkinsonism. Neurocase 22(3):273\u2013275. https:\/\/doi.org\/10.1080\/13554794.2016.1142567","journal-title":"Neurocase"},{"issue":"1","key":"11760_CR28","first-page":"75","volume":"29","author":"M Guida","year":"2014","unstructured":"Guida M, Pesaresi I, Fabbri S, Sartucci F, Cosottini M, Giorgi FS (2014) Epilepsy and phenylketonuria: a case description and EEG-fMRI findings. Funct Neurol 29(1):75\u20139","journal-title":"Funct Neurol"},{"issue":"2","key":"11760_CR29","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1007\/s00415-019-09608-2","volume":"267","author":"P Jaulent","year":"2020","unstructured":"Jaulent P, Charriere S, Feillet F, Douillard C, Fouilhoux A, Thobois S (2020) Neurological manifestations in adults with phenylketonuria: new cases and review of the literature. J Neurol 267(2):531\u2013542. https:\/\/doi.org\/10.1007\/s00415-019-09608-2","journal-title":"J Neurol"},{"issue":"4","key":"11760_CR30","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1055\/s-2008-1041141","volume":"13","author":"DS Younger","year":"1993","unstructured":"Younger DS (1993) Differential diagnosis of progressive spastic paraparesis. Semin Neurol 13(4):319\u2013321. https:\/\/doi.org\/10.1055\/s-2008-1041141","journal-title":"Semin Neurol"},{"issue":"1\u20132","key":"11760_CR31","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1016\/j.jns.2014.09.015","volume":"346","author":"L Zhovtis Ryerson","year":"2014","unstructured":"Zhovtis Ryerson L, Herbert J, Howard J, Kister I (2014) Adult-onset spastic paraparesis: an approach to diagnostic work-up. J Neurol Sci 346(1\u20132):43\u201350. https:\/\/doi.org\/10.1016\/j.jns.2014.09.015","journal-title":"J Neurol Sci"},{"issue":"8915","key":"11760_CR32","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/s0140-6736(94)91281-5","volume":"344","author":"MA Cleary","year":"1994","unstructured":"Cleary MA, Walter JH, Wraith JE, Jenkins JP, Alani SM, Tyler K, Whittle D (1994) Magnetic resonance imaging of the brain in phenylketonuria. Lancet 344(8915):87\u201390. https:\/\/doi.org\/10.1016\/s0140-6736(94)91281-5","journal-title":"Lancet"},{"issue":"12","key":"11760_CR33","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1007\/s00234-009-0574-z","volume":"51","author":"R Manara","year":"2009","unstructured":"Manara R, Burlina AP, Citton V, Ermani M, Vespignani F, Carollo C, Burlina AB (2009) Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria. Neuroradiology 51(12):803\u2013812. https:\/\/doi.org\/10.1007\/s00234-009-0574-z","journal-title":"Neuroradiology"},{"issue":"3","key":"11760_CR34","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1007\/s11547-009-0365-y","volume":"114","author":"T Scarabino","year":"2009","unstructured":"Scarabino T, Popolizio T, Tosetti M et al (2009) Phenylketonuria: white-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion. Radiol Med 114(3):461\u201374. https:\/\/doi.org\/10.1007\/s11547-009-0365-y","journal-title":"Radiol Med"},{"key":"11760_CR35","doi-asserted-by":"publisher","first-page":"101916","DOI":"10.1016\/j.nicl.2019.101916","volume":"23","author":"Z Hawks","year":"2019","unstructured":"Hawks Z, Hood AM, Lerman-Sinkoff DB et al (2019) White and gray matter brain development in children and young adults with phenylketonuria. Neuroimage Clin 23:101916. https:\/\/doi.org\/10.1016\/j.nicl.2019.101916","journal-title":"Neuroimage Clin"},{"issue":"2","key":"11760_CR36","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1148\/radiology.177.2.2217781","volume":"177","author":"KD Pearsen","year":"1990","unstructured":"Pearsen KD, Gean-Marton AD, Levy HL, Davis KR (1990) Phenylketonuria: MR imaging of the brain with clinical correlation. Radiology 177(2):437\u2013440. https:\/\/doi.org\/10.1148\/radiology.177.2.2217781","journal-title":"Radiology"},{"issue":"2","key":"11760_CR37","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1007\/s10545-006-0399-4","volume":"30","author":"V Leuzzi","year":"2007","unstructured":"Leuzzi V, Tosetti M, Montanaro D et al (2007) The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study. J Inherit Metab Dis 30(2):209\u201316. https:\/\/doi.org\/10.1007\/s10545-006-0399-4","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"11760_CR38","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1186\/s13023-018-0890-7","volume":"13","author":"D van Vliet","year":"2018","unstructured":"van Vliet D, van Wegberg AMJ, Ahring K et al (2018) Can untreated PKU patients escape from intellectual disability? A systematic review. Orphanet J Rare Dis 13(1):149. https:\/\/doi.org\/10.1186\/s13023-018-0890-7","journal-title":"Orphanet J Rare Dis"},{"issue":"10","key":"11760_CR39","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1080\/14767050902994697","volume":"22","author":"S Bouchlariotou","year":"2009","unstructured":"Bouchlariotou S, Tsikouras P, Maroulis G (2009) Undiagnosed maternal phenylketonuria: own clinical experience and literature review. J Matern Fetal Neonatal Med 22(10):943\u2013948. https:\/\/doi.org\/10.1080\/14767050902994697","journal-title":"J Matern Fetal Neonatal Med"},{"issue":"2","key":"11760_CR40","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/j.ejogrb.2007.12.011","volume":"137","author":"WB Hanley","year":"2008","unstructured":"Hanley WB (2008) Finding the fertile woman with phenylketonuria. Eur J Obstet Gynecol Reprod Biol 137(2):131\u2013135. https:\/\/doi.org\/10.1016\/j.ejogrb.2007.12.011","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"issue":"1","key":"11760_CR41","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1023\/a:1005638627604","volume":"23","author":"RA Moats","year":"2000","unstructured":"Moats RA, Koch R, Moseley K, Guldberg P, Guttler F, Boles RG, Nelson MD Jr (2000) Brain phenylalanine concentration in the management of adults with phenylketonuria. J Inherit Metab Dis 23(1):7\u201314. https:\/\/doi.org\/10.1023\/a:1005638627604","journal-title":"J Inherit Metab Dis"},{"issue":"11","key":"11760_CR42","doi-asserted-by":"publisher","first-page":"1184","DOI":"10.1097\/00004647-199811000-00004","volume":"18","author":"HE M\u00f6ller","year":"1998","unstructured":"M\u00f6ller HE, Weglage J, Wiedermann D, Ullrich K (1998) Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria. J Cereb Blood Flow Metab 18(11):1184\u20131191. https:\/\/doi.org\/10.1097\/00004647-199811000-00004","journal-title":"J Cereb Blood Flow Metab"},{"issue":"6","key":"11760_CR43","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1023\/a:1005621727560","volume":"23","author":"V Leuzzi","year":"2000","unstructured":"Leuzzi V, Bianchi MC, Tosetti M, Carducci CL, Carducci CA, Antonozzi I (2000) Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria. J Inherit Metab Dis 23(6):563\u2013570. https:\/\/doi.org\/10.1023\/a:1005621727560","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"11760_CR44","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1007\/s10545-008-0946-2","volume":"32","author":"FJ van Spronsen","year":"2009","unstructured":"van Spronsen FJ, Hoeksma M, Reijngoud DJ (2009) Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause? J Inherit Metab Dis 32(1):46\u201351. https:\/\/doi.org\/10.1007\/s10545-008-0946-2","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"11760_CR45","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1002\/jnr.24598","volume":"99","author":"BK Ferreira","year":"2021","unstructured":"Ferreira BK, Rodrigues MT, Streck EL, Ferreira GC, Schuck PF (2021) White matter disturbances in phenylketonuria: possible underlying mechanisms. J Neurosci Res 99(1):349\u2013360. https:\/\/doi.org\/10.1002\/jnr.24598","journal-title":"J Neurosci Res"},{"issue":"2","key":"11760_CR46","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1006\/exnr.1993.1206","volume":"124","author":"R Reynolds","year":"1993","unstructured":"Reynolds R, Burri R, Herschkowitz N (1993) Retarded development of neurons and oligodendroglia in rat forebrain produced by hyperphenylalaninemia results in permanent deficits in myelin despite long recovery periods. Exp Neurol 124(2):357\u2013367. https:\/\/doi.org\/10.1006\/exnr.1993.1206","journal-title":"Exp Neurol"},{"issue":"7","key":"11760_CR47","doi-asserted-by":"publisher","first-page":"795","DOI":"10.1097\/00005072-199607000-00005","volume":"55","author":"CA Dyer","year":"1996","unstructured":"Dyer CA, Kendler A, Philibotte T, Gardiner P, Cruz J, Levy HL (1996) Evidence for central nervous system glial cell plasticity in phenylketonuria. J Neuropathol Exp Neurol 55(7):795\u2013814. https:\/\/doi.org\/10.1097\/00005072-199607000-00005","journal-title":"J Neuropathol Exp Neurol"},{"issue":"3","key":"11760_CR48","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1111\/j.1469-8749.2008.02028.x","volume":"50","author":"R Koch","year":"2008","unstructured":"Koch R, Verma S, Gilles FH (2008) Neuropathology of a 4-month-old infant born to a woman with phenylketonuria. Dev Med Child Neurol 50(3):230\u2013233. https:\/\/doi.org\/10.1111\/j.1469-8749.2008.02028.x","journal-title":"Dev Med Child Neurol"},{"issue":"2","key":"11760_CR49","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1007\/s10545-010-9052-3","volume":"33","author":"R Schoemans","year":"2010","unstructured":"Schoemans R, Aigrot MS, Wu C et al (2010) Oligodendrocyte development and myelinogenesis are not impaired by high concentrations of phenylalanine or its metabolites. J Inherit Metab Dis 33(2):113\u2013120. https:\/\/doi.org\/10.1007\/s10545-010-9052-3","journal-title":"J Inherit Metab Dis"},{"issue":"3","key":"11760_CR50","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1007\/s00401-017-1739-1","volume":"134","author":"MS van der Knaap","year":"2017","unstructured":"van der Knaap MS, Bugiani M (2017) Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms. Acta Neuropathol 134(3):351\u2013382. https:\/\/doi.org\/10.1007\/s00401-017-1739-1","journal-title":"Acta Neuropathol"},{"issue":"2","key":"11760_CR51","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1097\/00005072-196604000-00006","volume":"25","author":"N Malamud","year":"1966","unstructured":"Malamud N (1966) Neuropathology of phenylketonuria. J Neuropathol Exp Neurol 25(2):254\u2013268. https:\/\/doi.org\/10.1097\/00005072-196604000-00006","journal-title":"J Neuropathol Exp Neurol"},{"issue":"Suppl 2","key":"11760_CR52","doi-asserted-by":"publisher","first-page":"S102","DOI":"10.1007\/pl00014371","volume":"159","author":"PR Huttenlocher","year":"2000","unstructured":"Huttenlocher PR (2000) The neuropathology of phenylketonuria: human and animal studies. Eur J Pediatr 159(Suppl 2):S102\u2013S106. https:\/\/doi.org\/10.1007\/pl00014371","journal-title":"Eur J Pediatr"},{"issue":"6","key":"11760_CR53","doi-asserted-by":"publisher","first-page":"1145","DOI":"10.1002\/mrm.21422","volume":"58","author":"P Vermathen","year":"2007","unstructured":"Vermathen P, Robert-Tissot L, Pietz J, Lutz T, Boesch C, Kreis R (2007) Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging. Magn Reson Med 58(6):1145\u20131156. https:\/\/doi.org\/10.1002\/mrm.21422","journal-title":"Magn Reson Med"},{"issue":"1","key":"11760_CR54","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1148\/radiol.2421051758","volume":"242","author":"SM Sirrs","year":"2007","unstructured":"Sirrs SM, Laule C, M\u00e4dler B, Brief EE, Tahir SA, Bishop C, MacKay AL (2007) Normal-appearing white matter in patients with phenylketonuria: water content, myelin water fraction, and metabolite concentrations. Radiology 242(1):236\u2013243. https:\/\/doi.org\/10.1148\/radiol.2421051758","journal-title":"Radiology"},{"key":"11760_CR55","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1212\/01.wnl.0000343049.00540.c8","volume":"72","author":"R Schiffmann","year":"2009","unstructured":"Schiffmann R, van der Knaap MS (2009) Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 72:750\u2013759. https:\/\/doi.org\/10.1212\/01.wnl.0000343049.00540.c8","journal-title":"Neurology"},{"issue":"2","key":"11760_CR56","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1038\/s41582-020-00432-1","volume":"17","author":"NI Wolf","year":"2021","unstructured":"Wolf NI, Ffrench-Constant C, van der Knaap MS (2021) Hypomyelinating leukodystrophies - unravelling myelin biology. Nat Rev Neurol 17(2):88\u2013103. https:\/\/doi.org\/10.1038\/s41582-020-00432-1","journal-title":"Nat Rev Neurol"},{"issue":"1","key":"11760_CR57","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1186\/s13023-017-0685-2","volume":"12","author":"AMJ van Wegberg","year":"2017","unstructured":"van Wegberg AMJ, MacDonald A, Ahring K et al (2017) The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis 12(1):162. https:\/\/doi.org\/10.1186\/s13023-017-0685-2","journal-title":"Orphanet J Rare Dis"},{"issue":"9","key":"11760_CR58","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1016\/S2213-8587(16)30320-5","volume":"5","author":"FJ van Spronsen","year":"2017","unstructured":"van Spronsen FJ, van Wegberg AM, Ahring K et al (2017) Key European guidelines for the diagnosis and management of patients with phenylketonuria. Lancet Diabetes Endocrinol 5(9):743\u2013756. https:\/\/doi.org\/10.1016\/S2213-8587(16)30320-5","journal-title":"Lancet Diabetes Endocrinol"},{"issue":"Suppl","key":"11760_CR59","doi-asserted-by":"publisher","first-page":"S73","DOI":"10.1016\/j.ymgme.2011.07.015","volume":"104","author":"MJ Gonz\u00e1lez","year":"2011","unstructured":"Gonz\u00e1lez MJ, Guti\u00e9rrez AP, Gassi\u00f3 R, Fust\u00e9 ME, Vilaseca MA, Campistol J (2011) Neurological complications and behavioral problems in patients with phenylketonuria in a follow-up unit. Mol Genet Metab 104(Suppl):S73\u2013S79. https:\/\/doi.org\/10.1016\/j.ymgme.2011.07.015","journal-title":"Mol Genet Metab"},{"issue":"8","key":"11760_CR60","doi-asserted-by":"publisher","first-page":"e031474","DOI":"10.1136\/bmjopen-2019-031474","volume":"9","author":"L Xiang","year":"2019","unstructured":"Xiang L, Tao J, Deng K et al (2019) Phenylketonuria incidence in China between 2013 and 2017 based on data from the Chinese newborn screening information system: a descriptive study. BMJ Open 9(8):e031474. https:\/\/doi.org\/10.1136\/bmjopen-2019-031474","journal-title":"BMJ Open"},{"issue":"3","key":"11760_CR61","doi-asserted-by":"publisher","first-page":"72","DOI":"10.5582\/irdr.2013.v2.3.72","volume":"2","author":"L Mei","year":"2013","unstructured":"Mei L, Song P, Xu L (2013) Newborn screening and related policy against Phenylketonuria in China. Intractable Rare Dis Res 2(3):72\u201376. https:\/\/doi.org\/10.5582\/irdr.2013.v2.3.72","journal-title":"Intractable Rare Dis Res"},{"issue":"2","key":"11760_CR62","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1007\/s12519-009-0027-0","volume":"5","author":"JY Zhan","year":"2009","unstructured":"Zhan JY, Qin YF, Zhao ZY (2009) Neonatal screening for congenital hypothyroidism and phenylketonuria in China. World J Pediatr 5(2):136\u2013139. https:\/\/doi.org\/10.1007\/s12519-009-0027-0","journal-title":"World J Pediatr"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-023-11760-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-023-11760-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-023-11760-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,13]],"date-time":"2023-07-13T13:07:23Z","timestamp":1689253643000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-023-11760-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,10]]},"references-count":62,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["11760"],"URL":"https:\/\/doi.org\/10.1007\/s00415-023-11760-9","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,10]]},"assertion":[{"value":"7 February 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 May 2023","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 May 2023","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 May 2023","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no conflict of interest. The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"This study was approved by the Ethics Committees of Beijing Tiantan Hospital (ID of the ethics approval: KY2020-105-02).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}