1 line
44 KiB
Plaintext
1 line
44 KiB
Plaintext
{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T17:43:24Z","timestamp":1697132604514},"reference-count":84,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2023,4,20]],"date-time":"2023-04-20T00:00:00Z","timestamp":1681948800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,4,20]],"date-time":"2023-04-20T00:00:00Z","timestamp":1681948800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"BioMarin Deutschland GmbH and BioMarin Pharmaceutical Inc."}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n <jats:title>Objective<\/jats:title>\n <jats:p>Phenylketonuria (PKU) is a rare inherited metabolic disorder characterised by elevated phenylalanine (Phe) concentrations that can exert neurotoxic effects if untreated or upon treatment discontinuation. This systematic review supported by expert opinion aims to raise awareness among the neurological community on neurological complications experienced by adults with PKU (AwPKU).<\/jats:p>\n <\/jats:sec><jats:sec>\n <jats:title>Methods<\/jats:title>\n <jats:p>The PubMed database was searched for articles on neurological signs and symptoms in AwPKU published before March 2022. In addition, two virtual advisory boards were held with a panel of seven neurologists and two metabolic physicians from Germany and Austria. Findings are supported by three illustrative patient cases.<\/jats:p>\n <\/jats:sec><jats:sec>\n <jats:title>Results<\/jats:title>\n <jats:p>Thirty-nine articles were included. Despite early diagnosis and treatment, neurological signs and symptoms (e.g. ataxia, brisk tendon reflexes, tremor, visual impairment) can emerge in adulthood, especially if treatment has been discontinued after childhood. In PKU, late-onset neurological deficits often co-occur with cognitive impairment and psychiatric symptoms, all of which can be completely or partially reversed through resumption of treatment.<\/jats:p>\n <\/jats:sec><jats:sec>\n <jats:title>Conclusion<\/jats:title>\n <jats:p>Ideally, neurologists should be part of the PKU multidisciplinary team, either to bring lost to follow-up patients back to clinic or to manage symptoms in referred patients, considering that symptoms are often reversible upon regaining metabolic control. The current findings have been combined in a leaflet that will be disseminated among neurologists in Germany and Austria to create awareness.\n<\/jats:p>\n <\/jats:sec>","DOI":"10.1007\/s00415-023-11703-4","type":"journal-article","created":{"date-parts":[[2023,4,20]],"date-time":"2023-04-20T19:54:46Z","timestamp":1682020486000},"page":"3675-3687","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion"],"prefix":"10.1007","volume":"270","author":[{"ORCID":"http:\/\/orcid.org\/0000-0002-2850-5110","authenticated-orcid":false,"given":"Martin","family":"Merkel","sequence":"first","affiliation":[]},{"given":"Daniela","family":"Berg","sequence":"additional","affiliation":[]},{"given":"Norbert","family":"Br\u00fcggemann","sequence":"additional","affiliation":[]},{"given":"Joseph","family":"Classen","sequence":"additional","affiliation":[]},{"given":"Tina","family":"Mainka","sequence":"additional","affiliation":[]},{"given":"Simone","family":"Zittel","sequence":"additional","affiliation":[]},{"given":"Ania C.","family":"Muntau","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2023,4,20]]},"reference":[{"key":"11703_CR1","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/j.parkreldis.2021.06.011","volume":"89","author":"T Mainka","year":"2021","unstructured":"Mainka T, Fischer JF, Huebl J, Jung A, Lier D, Mosejova A, Skorvanek M, de Koning TJ, K\u00fchn AA, Freisinger P et al (2021) The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria. Parkinsonism Relat Disord 89:167\u2013175. https:\/\/doi.org\/10.1016\/j.parkreldis.2021.06.011","journal-title":"Parkinsonism Relat Disord"},{"key":"11703_CR2","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, Belanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Gizewska M et al (2017) The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis 12:162. https:\/\/doi.org\/10.1186\/s13023-017-0685-2","journal-title":"Orphanet J Rare Dis"},{"key":"11703_CR3","doi-asserted-by":"publisher","first-page":"561","DOI":"10.3389\/fpsyt.2019.00561","volume":"10","author":"K Ashe","year":"2019","unstructured":"Ashe K, Kelso W, Farrand S, Panetta J, Fazio T, De Jong G, Walterfang M (2019) Psychiatric and cognitive aspects of phenylketonuria: the limitations of diet and promise of new treatments. Front Psychiatry 10:561. https:\/\/doi.org\/10.3389\/fpsyt.2019.00561","journal-title":"Front Psychiatry"},{"key":"11703_CR4","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1038\/gim.2013.157","volume":"16","author":"J Vockley","year":"2014","unstructured":"Vockley J, Andersson HC, Antshel KM, Braverman NE, Burton BK, Frazier DM, Mitchell J, Smith WE, Thompson BH, Berry SA et al (2014) Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med 16:188\u2013200. https:\/\/doi.org\/10.1038\/gim.2013.157","journal-title":"Genet Med"},{"key":"11703_CR5","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1016\/j.ymgme.2017.01.001","volume":"120","author":"ER Jurecki","year":"2017","unstructured":"Jurecki ER, Cederbaum S, Kopesky J, Perry K, Rohr F, Sanchez-Valle A, Viau KS, Sheinin MY, Cohen-Pfeffer JL (2017) Adherence to clinic recommendations among patients with phenylketonuria in the United States. Mol Genet Metab 120:190\u2013197. https:\/\/doi.org\/10.1016\/j.ymgme.2017.01.001","journal-title":"Mol Genet Metab"},{"key":"11703_CR6","doi-asserted-by":"publisher","author":"V Kanufre","year":"2021","unstructured":"Kanufre V, Almeida MF, Barbosa CS, Carmona C, Bandeira A, Martins E, Rocha S, Guimas A, Ribeiro R, MacDonald A et al (2021) Metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendations. Nutrients. https:\/\/doi.org\/10.3390\/nu13093118","journal-title":"Nutrients","DOI":"10.3390\/nu13093118"},{"key":"11703_CR7","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.ymgmr.2018.10.002","volume":"17","author":"S Ford","year":"2018","unstructured":"Ford S, O\u2019Driscoll M, MacDonald A (2018) Living with phenylketonuria: lessons from the PKU community. Mol Genet Metab Rep 17:57\u201363. https:\/\/doi.org\/10.1016\/j.ymgmr.2018.10.002","journal-title":"Mol Genet Metab Rep"},{"key":"11703_CR8","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/j.ymgmr.2018.06.007","volume":"16","author":"C Cazzorla","year":"2018","unstructured":"Cazzorla C, Bensi G, Biasucci G, Leuzzi V, Manti F, Musumeci A, Papadia F, Stoppioni V, Tummolo A, Vendemiale M et al (2018) Living with phenylketonuria in adulthood: the PKU ATTITUDE study. Mol Genet Metab Rep 16:39\u201345. https:\/\/doi.org\/10.1016\/j.ymgmr.2018.06.007","journal-title":"Mol Genet Metab Rep"},{"key":"11703_CR9","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1007\/s004310051008","volume":"158","author":"P Burgard","year":"1997","unstructured":"Burgard P, Bremer HJ, B\u00fchrdel P, Clemens PC, M\u00f6nch E, Przyrembel H et al (1997) Rationale for the German recommendations for phenylalanine level control in phenylketonuria. Eur J Pediatr 158:46\u201354. https:\/\/doi.org\/10.1007\/s004310051008","journal-title":"Eur J Pediatr"},{"key":"11703_CR10","doi-asserted-by":"publisher","first-page":"103818","DOI":"10.1016\/j.ejmg.2019.103818","volume":"63","author":"JS Suddaby","year":"2020","unstructured":"Suddaby JS, Sohaei D, Bell H, Tavares S, Lee GJ, Szybowska M, So J (2020) Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services. Eur J Med Genet 63:103818. https:\/\/doi.org\/10.1016\/j.ejmg.2019.103818","journal-title":"Eur J Med Genet"},{"key":"11703_CR11","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/j.ymgme.2021.05.003","volume":"133","author":"M Beghini","year":"2021","unstructured":"Beghini M, Resch FJ, M\u00f6slinger D, Konstantopoulou V, Karall D, Scholl-B\u00fcrgi S et al (2021) Project \u201cBacktoclinic I\u201d: an overview on the state of care of adult PKU patients in Austria. Mol Genet Metab 133:257\u2013260. https:\/\/doi.org\/10.1016\/j.ymgme.2021.05.003","journal-title":"Mol Genet Metab"},{"key":"11703_CR12","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1186\/s13023-018-0839-x","volume":"13","author":"GA Montoya Parra","year":"2018","unstructured":"Montoya Parra GA, Singh RH, Cetinyurek-Yavuz A, Kuhn M, MacDonald A (2018) Status of nutrients important in brain function in phenylketonuria: a systematic review and meta-analysis. Orphanet J Rare Dis 13:101. https:\/\/doi.org\/10.1186\/s13023-018-0839-x","journal-title":"Orphanet J Rare Dis"},{"key":"11703_CR13","doi-asserted-by":"publisher","first-page":"6859820","DOI":"10.1155\/2017\/6859820","volume":"2017","author":"BM Stroup","year":"2017","unstructured":"Stroup BM, Ney DM, Murali SG, Rohr F, Gleason ST, van Calcar SC, Levy HL (2017) Metabolomic insights into the nutritional status of adults and adolescents with phenylketonuria consuming a low-phenylalanine diet in combination with amino acid and glycomacropeptide medical foods. J Nutr Metab 2017:6859820. https:\/\/doi.org\/10.1155\/2017\/6859820","journal-title":"J Nutr Metab"},{"key":"11703_CR14","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ymgme.2017.03.002","volume":"121","author":"DA Bilder","year":"2017","unstructured":"Bilder DA, Kobori JA, Cohen-Pfeffer JL, Johnson EM, Jurecki ER, Grant ML (2017) Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study. Mol Genet Metab 121:1\u20138. https:\/\/doi.org\/10.1016\/j.ymgme.2017.03.002","journal-title":"Mol Genet Metab"},{"issue":"Suppl","key":"11703_CR15","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"},{"key":"11703_CR16","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1111\/j.1440-1754.1991.tb00384.x","volume":"27","author":"DB Pitt","year":"1991","unstructured":"Pitt DB, Danks DM (1991) The natural history of untreated phenylketonuria over 20 years. J Paediatr Child Health 27:189\u2013190","journal-title":"J Paediatr Child Health"},{"issue":"Pt 4","key":"11703_CR17","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1093\/brain\/116.4.811","volume":"116","author":"AJ Thompson","year":"1993","unstructured":"Thompson AJ, Tillotson S, Smith I, Kendall B, Moore SG, Brenton DP (1993) Brain MRI changes in phenylketonuria. Associations with dietary status. Brain 116(Pt 4):811\u2013821","journal-title":"Brain"},{"key":"11703_CR18","doi-asserted-by":"publisher","first-page":"1074","DOI":"10.1212\/01.wnl.0000204415.39853.4a","volume":"66","author":"B Perez-Duenas","year":"2006","unstructured":"Perez-Duenas B, Pujol J, Soriano-Mas C, Ortiz H, Artuch R, Vilaseca MA, Campistol J (2006) Global and regional volume changes in the brains of patients with phenylketonuria. Neurology 66:1074\u20131078. https:\/\/doi.org\/10.1212\/01.wnl.0000204415.39853.4a","journal-title":"Neurology"},{"key":"11703_CR19","doi-asserted-by":"publisher","first-page":"1328","DOI":"10.1007\/s00415-005-0860-6","volume":"252","author":"B Perez-Duenas","year":"2005","unstructured":"Perez-Duenas B, Valls-Sole J, Fernandez-Alvarez E, Conill J, Vilaseca MA, Artuch R, Campistol J (2005) Characterization of tremor in phenylketonuric patients. J Neurol 252:1328\u20131334. https:\/\/doi.org\/10.1007\/s00415-005-0860-6","journal-title":"J Neurol"},{"key":"11703_CR20","doi-asserted-by":"publisher","first-page":"378","DOI":"10.5694\/j.1326-5377.1971.tb87588.x","volume":"1","author":"D Pitt","year":"1971","unstructured":"Pitt D (1971) The natural history of untreated phenylketonuria. Med J Aust 1:378\u2013383. https:\/\/doi.org\/10.5694\/j.1326-5377.1971.tb87588.x","journal-title":"Med J Aust"},{"key":"11703_CR21","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1111\/j.1600-0404.1974.tb02804.x","volume":"50","author":"HE Pedersen","year":"1974","unstructured":"Pedersen HE, Birket-Smith E (1974) Neurological abnormalities in phenylketonuria. Acta Neurol Scand 50:589\u2013598. https:\/\/doi.org\/10.1111\/j.1600-0404.1974.tb02804.x","journal-title":"Acta Neurol Scand"},{"key":"11703_CR22","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1002\/jimd.12065","volume":"42","author":"AP Burlina","year":"2019","unstructured":"Burlina AP, Lachmann RH, Manara R, Cazzorla C, Celato A, van Spronsen FJ, Burlina A (2019) The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: a systematic review. J Inherit Metab Dis 42:209\u2013219. https:\/\/doi.org\/10.1002\/jimd.12065","journal-title":"J Inherit Metab Dis"},{"key":"11703_CR23","doi-asserted-by":"publisher","first-page":"e399","DOI":"10.1212\/WNL.0000000000011088","volume":"96","author":"A Pilotto","year":"2021","unstructured":"Pilotto A, Zipser CM, Leks E, Haas D, Gramer G, Freisinger P, Schaeffer E, Liepelt-Scarfone I, Brockmann K, Maetzler W et al (2021) Phenylalanine effects on brain function in adult phenylketonuria. Neurology 96:e399\u2013e411. https:\/\/doi.org\/10.1212\/WNL.0000000000011088","journal-title":"Neurology"},{"key":"11703_CR24","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.ymgme.2019.05.017","volume":"128","author":"F Nardecchia","year":"2019","unstructured":"Nardecchia F, Manti F, De Leo S, Carducci C, Leuzzi V (2019) Clinical characterization of tremor in patients with phenylketonuria. Mol Genet Metab 128:53\u201356. https:\/\/doi.org\/10.1016\/j.ymgme.2019.05.017","journal-title":"Mol Genet Metab"},{"key":"11703_CR25","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 267:531\u2013542. https:\/\/doi.org\/10.1007\/s00415-019-09608-2","journal-title":"J Neurol"},{"key":"11703_CR26","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1136\/jmedgenet-2019-106278","volume":"57","author":"V Leuzzi","year":"2020","unstructured":"Leuzzi V, Chiarotti F, Nardecchia F, van Vliet D, van Spronsen FJ (2020) Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines. J Med Genet 57:145\u2013150. https:\/\/doi.org\/10.1136\/jmedgenet-2019-106278","journal-title":"J Med Genet"},{"key":"11703_CR27","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1080\/028418501127347179","volume":"42","author":"M Dezortova","year":"2001","unstructured":"Dezortova M, Hajek M, Tintera J, Hejcmanova L, Sykova E (2001) MR in phenylketonuria-related brain lesions. Acta Radiol 42:459\u2013466","journal-title":"Acta Radiol"},{"key":"11703_CR28","first-page":"1681","volume":"26","author":"NH Pfaendner","year":"2005","unstructured":"Pfaendner NH, Reuner G, Pietz J, Jost G, Rating D, Magnotta VA, Mohr A, Kress B, Sartor K, H\u00e4hnel S (2005) MR imaging-based volumetry in patients with early-treated phenylketonuria. AJNR Am J Neuroradiol 26:1681\u20131685","journal-title":"AJNR Am J Neuroradiol"},{"key":"11703_CR29","doi-asserted-by":"publisher","first-page":"824","DOI":"10.1007\/s004310050945","volume":"157","author":"J Pietz","year":"1998","unstructured":"Pietz J, Dunckelmann R, Rupp A, Rating D, Meinck HM, Schmidt H, Bremer HJ (1998) Neurological outcome in adult patients with early-treated phenylketonuria. Eur J Pediatr 157:824\u2013830","journal-title":"Eur J Pediatr"},{"key":"11703_CR30","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1023\/A:1020158631102","volume":"25","author":"R Koch","year":"2002","unstructured":"Koch R, Burton B, Hoganson G, Peterson R, Rhead W, Rouse B, Scott R, Wolff J, Stern AM, Guttler F et al (2002) Phenylketonuria in adulthood: a collaborative study. J Inherit Metab Dis 25:333\u2013346","journal-title":"J Inherit Metab Dis"},{"key":"11703_CR31","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1203\/00006450-199511000-00005","volume":"38","author":"J Pietz","year":"1995","unstructured":"Pietz J, Kreis R, Boesch C, Penzien J, Rating D, Herschkowitz N (1995) The dynamics of brain concentrations of phenylalanine and its clinical significance in patients with phenylketonuria determined by in vivo 1H magnetic resonance spectroscopy. Pediatr Res 38:657\u2013663. https:\/\/doi.org\/10.1203\/00006450-199511000-00005","journal-title":"Pediatr Res"},{"key":"11703_CR32","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1097\/00004647-200103000-00011","volume":"21","author":"A Rupp","year":"2001","unstructured":"Rupp A, Kreis R, Zschocke J, Slotboom J, Boesch C, Rating D, Pietz J (2001) Variability of blood\u2013brain ratios of phenylalanine in typical patients with phenylketonuria. J Cereb Blood Flow Metab 21:276\u2013284. https:\/\/doi.org\/10.1097\/00004647-200103000-00011","journal-title":"J Cereb Blood Flow Metab"},{"key":"11703_CR33","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1023\/A:1005694122277","volume":"23","author":"AB Burlina","year":"2000","unstructured":"Burlina AB, Bonafe L, Ferrari V, Suppiej A, Zacchello F, Burlina AP (2000) Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment. J Inherit Metab Dis 23:313\u2013316","journal-title":"J Inherit Metab Dis"},{"key":"11703_CR34","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) 170:280\u2013287. https:\/\/doi.org\/10.1016\/j.neurol.2013.09.012","journal-title":"Rev Neurol (Paris)"},{"key":"11703_CR35","doi-asserted-by":"publisher","first-page":"1169","DOI":"10.1172\/JCI5017","volume":"103","author":"J Pietz","year":"1999","unstructured":"Pietz J, Kreis R, Rupp A, Mayatepek E, Rating D, Boesch C, Bremer HJ (1999) Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J Clin Invest 103:1169\u20131178. https:\/\/doi.org\/10.1172\/JCI5017","journal-title":"J Clin Invest"},{"key":"11703_CR36","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1016\/0140-6736(90)93401-A","volume":"336","author":"AJ Thompson","year":"1990","unstructured":"Thompson AJ, Smith I, Brenton D, Youl BD, Rylance G, Davidson DC, Kendall B, Lees AJ (1990) Neurological deterioration in young adults with phenylketonuria. Lancet 336:602\u2013605","journal-title":"Lancet"},{"key":"11703_CR37","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 23:563\u2013570. https:\/\/doi.org\/10.1023\/a:1005621727560","journal-title":"J Inherit Metab Dis"},{"key":"11703_CR38","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1159\/000007895","volume":"39","author":"GV McDonnell","year":"1998","unstructured":"McDonnell GV, Esmonde TF, Hadden DR, Morrow JI (1998) A neurological evaluation of adult phenylketonuria in Northern Ireland. Eur Neurol 39:38\u201343. https:\/\/doi.org\/10.1159\/000007895","journal-title":"Eur Neurol"},{"key":"11703_CR39","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1016\/s0022-3476(00)90022-2","volume":"136","author":"M Robinson","year":"2000","unstructured":"Robinson M, White FJ, Cleary MA, Wraith E, Lam WK, Walter JH (2000) Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet. J Pediatr 136:545\u2013547. https:\/\/doi.org\/10.1016\/s0022-3476(00)90022-2","journal-title":"J Pediatr"},{"key":"11703_CR40","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1007\/s10545-006-0108-3","volume":"29","author":"AM Hvas","year":"2006","unstructured":"Hvas AM, Nexo E, Nielsen JB (2006) Vitamin B12 and vitamin B6 supplementation is needed among adults with phenylketonuria (PKU). J Inherit Metab Dis 29:47\u201353. https:\/\/doi.org\/10.1007\/s10545-006-0108-3","journal-title":"J Inherit Metab Dis"},{"key":"11703_CR41","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1007\/8904_2016_11","volume":"34","author":"SE Waisbren","year":"2017","unstructured":"Waisbren SE, Prabhu SP, Greenstein P, Petty C, Schomer D, Anastasoaie V, Charette K, Rodriguez D, Merugumala S, Lin AP (2017) Improved measurement of brain phenylalanine and tyrosine related to neuropsychological functioning in phenylketonuria. JIMD Rep 34:77\u201386. https:\/\/doi.org\/10.1007\/8904_2016_11","journal-title":"JIMD Rep"},{"key":"11703_CR42","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 344:87\u201390","journal-title":"Lancet"},{"key":"11703_CR43","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1007\/BF02436009","volume":"18","author":"V Leuzzi","year":"1995","unstructured":"Leuzzi V, Trasimeni G, Gualdi GF, Antonozzi I (1995) Biochemical, clinical and neuroradiological (MRI) correlations in late-detected PKU patients. J Inherit Metab Dis 18:624\u2013634. https:\/\/doi.org\/10.1007\/BF02436009","journal-title":"J Inherit Metab Dis"},{"key":"11703_CR44","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1002\/ana.1226","volume":"50","author":"J Weglage","year":"2001","unstructured":"Weglage J, Wiedermann D, Denecke J, Feldmann R, Koch HG, Ullrich K et al (2001) Individual blood\u2013brain barrier phenylalanine transport determines clinical outcome in phenylketonuria. Ann Neurol 50:463\u2013467. https:\/\/doi.org\/10.1002\/ana.1226","journal-title":"Ann Neurol"},{"key":"11703_CR45","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1023\/a:1021234730512","volume":"25","author":"J Weglage","year":"2002","unstructured":"Weglage J, Wiedermann D, Denecke J, Feldmann R, Koch HG, Ullrich K, M\u00f6ller HE (2002) Individual blood\u2013brain barrier phenylalanine transport in siblings with classical phenylketonuria. J Inherit Metab Dis 25:431\u2013436. https:\/\/doi.org\/10.1023\/a:1021234730512","journal-title":"J Inherit Metab Dis"},{"key":"11703_CR46","doi-asserted-by":"publisher","author":"E Boot","year":"2017","unstructured":"Boot E, Hollak CEM, Huijbregts SCJ, Jahja R, van Vliet D, Nederveen AJ, Nieman DH, Bosch AM, Bour LJ, Bakermans AJ et al (2017) Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria. Psychol Med. https:\/\/doi.org\/10.1017\/S0033291717001398","journal-title":"Psychol Med","DOI":"10.1017\/S0033291717001398"},{"key":"11703_CR47","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, Bik-Multanowski M, Casas K, Didycz B, Djordjevic M, Hertecant JL, Leuzzi V, Mathisen P et al (2019) Untreated PKU patients without intellectual disability: what do they teach us? Nutrients 11:2572. https:\/\/doi.org\/10.3390\/nu11112572","journal-title":"Nutrients"},{"key":"11703_CR48","doi-asserted-by":"publisher","first-page":"39","DOI":"10.2105\/ajph.75.1.39","volume":"75","author":"VE Schuett","year":"1985","unstructured":"Schuett VE, Brown ES, Michals K (1985) Reinstitution of diet therapy in PKU patients from twenty-two US clinics. Am J Public Health 75:39\u201342. https:\/\/doi.org\/10.2105\/ajph.75.1.39","journal-title":"Am J Public Health"},{"key":"11703_CR49","doi-asserted-by":"publisher","first-page":"664","DOI":"10.1080\/08035259950169350","volume":"88","author":"R Cerone","year":"1999","unstructured":"Cerone R, Schiaffino MC, Di Stefano S, Veneselli E (1999) Phenylketonuria: diet for life or not? Acta Paediatr 88:664\u2013666. https:\/\/doi.org\/10.1080\/08035259950169350","journal-title":"Acta Paediatr"},{"key":"11703_CR50","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1007\/BF01802042","volume":"12","author":"D Villasana","year":"1989","unstructured":"Villasana D, Butler IJ, Williams JC, Roongta SM (1989) Neurological deterioration in adult phenylketonuria. J Inherit Metab Dis 12:451\u2013457. https:\/\/doi.org\/10.1007\/BF01802042","journal-title":"J Inherit Metab Dis"},{"key":"11703_CR51","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1016\/j.yebeh.2018.02.024","volume":"82","author":"S Yildiz Celik","year":"2018","unstructured":"Yildiz Celik S, Bebek N, Gurses C, Baykan B, Gokyigit A (2018) Clinical and electrophysiological findings in patients with phenylketonuria and epilepsy: reflex features. Epilepsy Behav 82:46\u201351. https:\/\/doi.org\/10.1016\/j.yebeh.2018.02.024","journal-title":"Epilepsy Behav"},{"key":"11703_CR52","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1007\/BF00711747","volume":"18","author":"S Yannicelli","year":"1995","unstructured":"Yannicelli S, Ryan A (1995) Improvements in behaviour and physical manifestations in previously untreated adults with phenylketonuria using a phenylalanine-restricted diet: a national survey. J Inherit Metab Dis 18:131\u2013134. https:\/\/doi.org\/10.1007\/BF00711747","journal-title":"J Inherit Metab Dis"},{"key":"11703_CR53","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1203\/00006450-197803000-00004","volume":"12","author":"D Marholin 2nd","year":"1978","unstructured":"Marholin D 2nd, Pohl RE 3rd, Stewart RM, Touchette PE, Townsend NM, Kolodny EH (1978) Effects of diet and behavior therapy on social and motor behavior of retarded phenylketonuric adults: an experimental analysis. Pediatr Res 12:179\u2013187. https:\/\/doi.org\/10.1203\/00006450-197803000-00004","journal-title":"Pediatr Res"},{"key":"11703_CR54","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1186\/s13023-020-01668-2","volume":"16","author":"NM Burgess","year":"2021","unstructured":"Burgess NM, Kelso W, Malpas CB, Winton-Brown T, Fazio T, Panetta J, De Jong G, Neath J, Atherton S, Velakoulis D et al (2021) The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study. Orphanet J Rare Dis 16:35. https:\/\/doi.org\/10.1186\/s13023-020-01668-2","journal-title":"Orphanet J Rare Dis"},{"key":"11703_CR55","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1016\/j.ymgme.2014.11.011","volume":"114","author":"B Burton","year":"2015","unstructured":"Burton B, Grant M, Feigenbaum A, Singh R, Hendren R, Siriwardena K, Phillips J III, Sanchez-Valle A, Waisbren S, Gillis J et al (2015) A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria. Mol Genet Metab 114:415\u2013424. https:\/\/doi.org\/10.1016\/j.ymgme.2014.11.011","journal-title":"Mol Genet Metab"},{"key":"11703_CR56","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1002\/ajmg.a.62574","volume":"188","author":"DA Bilder","year":"2022","unstructured":"Bilder DA, Arnold GL, Dimmock D, Grant ML, Janzen D, Longo N et al (2022) Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria. Am J Med Genet A 188:768\u2013778. https:\/\/doi.org\/10.1002\/ajmg.a.62574","journal-title":"Am J Med Genet A"},{"issue":"Suppl 1","key":"11703_CR57","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"},{"key":"11703_CR58","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1016\/S0022-3476(95)70303-9","volume":"127","author":"MA Cleary","year":"1995","unstructured":"Cleary MA, Walter JH, Wraith JE, White F, Tyler K, Jenkins JP (1995) Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change. J Pediatr 127:251\u2013255","journal-title":"J Pediatr"},{"key":"11703_CR59","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1016\/j.ymgme.2013.07.010","volume":"110","author":"DA White","year":"2013","unstructured":"White DA, Antenor-Dorsey JAV, Grange DK, Hershey T, Rutlin J, Shimony JS, McKinstry RC, Christ SE (2013) White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria. Mol Genet Metab 110:213\u2013217. https:\/\/doi.org\/10.1016\/j.ymgme.2013.07.010","journal-title":"Mol Genet Metab"},{"key":"11703_CR60","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1016\/j.nicl.2013.08.012","volume":"3","author":"SE Christ","year":"2013","unstructured":"Christ SE, Moffitt AJ, Peck D, White DA (2013) The effects of tetrahydrobiopterin (BH4) treatment on brain function in individuals with phenylketonuria. Neuroimage Clin 3:539\u2013547. https:\/\/doi.org\/10.1016\/j.nicl.2013.08.012","journal-title":"Neuroimage Clin"},{"issue":"Pt 4","key":"11703_CR61","first-page":"361","volume":"34","author":"C Crowley","year":"1990","unstructured":"Crowley C, Koch R, Fishler K, Wenz E, Ireland J (1990) Clinical trial of \u201coff diet\u201d older phenylketonurics with a new phenylalanine-free product. J Ment Defic Res 34(Pt 4):361\u2013369","journal-title":"J Ment Defic Res"},{"key":"11703_CR62","doi-asserted-by":"publisher","first-page":"100571","DOI":"10.1016\/j.ymgmr.2020.100571","volume":"23","author":"J Beazer","year":"2020","unstructured":"Beazer J, Breck J, Eggerding C, Gordon P, Hacker S, Thompson A, Group TPLtF-UR (2020) Strategies to engage lost to follow-up patients with phenylketonuria in the United States: best practice recommendations. Mol Genet Metab Rep 23:100571. https:\/\/doi.org\/10.1016\/j.ymgmr.2020.100571","journal-title":"Mol Genet Metab Rep"},{"key":"11703_CR63","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1177\/2326409817733015","volume":"5","author":"J Thomas","year":"2017","unstructured":"Thomas J, Nguyen-Driver M, Bausell H, Breck J, Zambrano J, Birardi V (2017) Strategies for successful long-term engagement of adults with phenylalanine hydroxylase deficiency returning to the clinic. J Inborn Errors Metab Screeng 5:1\u20139. https:\/\/doi.org\/10.1177\/2326409817733015","journal-title":"J Inborn Errors Metab Screeng"},{"key":"11703_CR64","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, Ahmed S, Chabraoui L, Zaki MS et al (2021) Study group on missed PKU and missed to follow-up. undiagnosed phenylketonuria can exist everywhere: results from an international survey. J Pediatr 239:231\u2013234. https:\/\/doi.org\/10.1016\/j.jpeds.2021.08.070","journal-title":"J Pediatr"},{"key":"11703_CR65","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1038\/gim.2013.10","volume":"15","author":"SA Berry","year":"2013","unstructured":"Berry SA, Brown C, Grant M, Greene CL, Jurecki E, Koch J, Moseley K, Suter R, van Calcar SC, Wiles J et al (2013) Newborn screening 50 years later: access issues faced by adults with PKU. Genet Med 15:591\u2013599. https:\/\/doi.org\/10.1038\/gim.2013.10","journal-title":"Genet Med"},{"key":"11703_CR66","doi-asserted-by":"publisher","first-page":"15","DOI":"10.3390\/ijns7010015","volume":"7","author":"JG Loeber","year":"2021","unstructured":"Loeber JG, Platis D, Zetterstr\u00f6m RH, Almashanu S, Boemer F, Bonham JR et al (2021) Neonatal Screening in Europe revisited: an ISNS Perspective on the Current State and Developments Since 2010. Int J Neonatal Screen 7:15. https:\/\/doi.org\/10.3390\/ijns7010015","journal-title":"Int J Neonatal Screen"},{"key":"11703_CR67","doi-asserted-by":"publisher","first-page":"517","DOI":"10.3390\/genes13030517","volume":"13","author":"D Perko","year":"2022","unstructured":"Perko D, Repic Lampret B, Remec ZI, Zerjav Tansek M, Drole Torkar A, Krhin B et al (2022) Optimizing the phenylalanine cut-off value in a newborn screening program. Genes (Basel) 13:517. https:\/\/doi.org\/10.3390\/genes13030517","journal-title":"Genes (Basel)"},{"key":"11703_CR68","unstructured":"MoCA Cognitive Assessment. https:\/\/www.mocatest.org\/. Accessed 1 July 2022"},{"key":"11703_CR69","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1186\/s13023-018-0912-5","volume":"13","author":"MJ Gonz\u00e1lez","year":"2018","unstructured":"Gonz\u00e1lez MJ, Polo MR, Ripoll\u00e9s P, Gassi\u00f3 R, Ormazabal A, Sierra C, Roura RC, Artuch R, Campistol J (2018) White matter microstructural damage in early treated phenylketonuric patients. Orphanet J Rare Dis 13:188. https:\/\/doi.org\/10.1186\/s13023-018-0912-5","journal-title":"Orphanet J Rare Dis"},{"key":"11703_CR70","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1148\/radiol.2362040611","volume":"236","author":"K Kono","year":"2005","unstructured":"Kono K, Okano Y, Nakayama K, Hase Y, Minamikawa S, Ozawa N, Yokote H, Inoue Y (2005) Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter. Radiology 236:630\u2013636. https:\/\/doi.org\/10.1148\/radiol.2362040611","journal-title":"Radiology"},{"key":"11703_CR71","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1016\/j.ymgme.2015.08.005","volume":"116","author":"M Mastrangelo","year":"2015","unstructured":"Mastrangelo M, Chiarotti F, Berillo L, Caputi C, Carducci C, Di Biasi C, Manti F, Nardecchia F, Leuzzi V (2015) The outcome of white matter abnormalities in early treated phenylketonuric patients: a retrospective longitudinal long-term study. Mol Genet Metab 116:171\u2013177. https:\/\/doi.org\/10.1016\/j.ymgme.2015.08.005","journal-title":"Mol Genet Metab"},{"key":"11703_CR72","doi-asserted-by":"publisher","first-page":"1040","DOI":"10.3389\/fneur.2019.01040","volume":"10","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 10:1040. https:\/\/doi.org\/10.3389\/fneur.2019.01040","journal-title":"Front Neurol"},{"key":"11703_CR73","doi-asserted-by":"publisher","first-page":"100649","DOI":"10.1016\/j.ymgmr.2020.100649","volume":"25","author":"C Serfozo","year":"2020","unstructured":"Serfozo C, Barta AG, Horvath E, Sumanszki C, Csakany B, Resch M, Nagy ZZ, Reismann P (2020) Altered visual functions, macular ganglion cell and papillary retinal nerve fiber layer thickness in early-treated adult PKU patients. Mol Genet Metab Rep 25:100649. https:\/\/doi.org\/10.1016\/j.ymgmr.2020.100649","journal-title":"Mol Genet Metab Rep"},{"key":"11703_CR74","first-page":"271","volume-title":"Parkinson's Disease and Movement Disorders","author":"S Fahn","year":"1993","unstructured":"Fahn S, Tolosa E, Conceppcion M (1993) Clinical rating scale for tremor. In: Jankovic J, Tolosa E (eds) Parkinson\u2019s Disease and Movement Disorders. Williams and Wilkins, Baltimore, pp 271\u2013280"},{"key":"11703_CR75","unstructured":"Scale for Assessment and Rating of Ataxia.https:\/\/www.sralab.org\/rehabilitation-measures\/scale-assessment-and-rating-ataxia. Accessed 1 July 2022"},{"key":"11703_CR76","doi-asserted-by":"crossref","unstructured":"MDS-Unified Parkinson's Disease Rating Scale (MDS-UPDRS). https:\/\/www.movementdisorders.org\/MDS\/MDS-Rating-Scales\/MDS-Unified-Parkinsons-Disease-Rating-Scale-MDS-UPDRS.htm. Accessed 1 July 2022","DOI":"10.1155\/2022\/2920255"},{"key":"11703_CR77","unstructured":"Frontal Assessment Battery. https:\/\/psychscenehub.com\/wp-content\/uploads\/2018\/07\/Frontal_FAB_Scale.pdf. Accessed 1 July 2022"},{"key":"11703_CR78","unstructured":"Beck's Depression Inventory. https:\/\/www.ismanet.org\/doctoryourspirit\/pdfs\/Beck-Depression-Inventory-BDI.pdf. Accessed 1 July 2022"},{"issue":"1\u20132","key":"11703_CR79","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.ymgme.2017.04.013","volume":"122","author":"M Goldfinger","year":"2017","unstructured":"Goldfinger M, Zeile WL, Corado CR, O\u2019Neill CA, Tsuruda LS, Laipis PJ, Cooper JD (2017) Partial rescue of neuropathology in the murine model of PKU following administration of recombinant phenylalanine ammonia lyase (pegvaliase). Mol Genet Metab 122(1\u20132):33\u201335. https:\/\/doi.org\/10.1016\/j.ymgme.2017.04.013","journal-title":"Mol Genet Metab"},{"key":"11703_CR80","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/j.ymgme.2014.11.007","volume":"114","author":"A Hood","year":"2015","unstructured":"Hood A, Antenor-Dorsey JAV, Rutlin J, Hershey T, Shimony JS, McKinstry RC, Grange DK, Christ SE, Steiner R, White DA (2015) Prolonged exposure to high and variable phenylalanine levels over the lifetime predicts brain white matter integrity in children with phenylketonuria. Mol Genet Metab 114:19\u201324. https:\/\/doi.org\/10.1016\/j.ymgme.2014.11.007","journal-title":"Mol Genet Metab"},{"key":"11703_CR81","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, Shimony JS, Rutlin J, Lagoni D, Grange DK, White DA (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"},{"key":"11703_CR82","doi-asserted-by":"publisher","first-page":"100810","DOI":"10.1016\/j.ymgmr.2021.100810","volume":"29","author":"BK Burton","year":"2021","unstructured":"Burton BK, Skalicky A, Baerwald C, Bilder DA, Harding CO, Ilan AB, Jurecki E, Longo N, Madden DT, Sivri HS et al (2021) A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials. Mol Genet Metab Rep 29:100810. https:\/\/doi.org\/10.1016\/j.ymgmr.2021.100810","journal-title":"Mol Genet Metab Rep"},{"issue":"1\u20132","key":"11703_CR83","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1016\/j.ymgme.2022.07.012","volume":"137","author":"BK Burton","year":"2022","unstructured":"Burton BK, Hermida \u00c1, B\u00e9langer-Quintana A, Bell H, Bjoraker KJ, Christ SE et al (2022) Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach. Mol Genet Metab 137(1\u20132):114\u2013126. https:\/\/doi.org\/10.1016\/j.ymgme.2022.07.012","journal-title":"Mol Genet Metab"},{"key":"11703_CR84","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1186\/s13023-021-02086-8","volume":"16","author":"A Burlina","year":"2021","unstructured":"Burlina A, Biasucci G, Carbone MT, Cazzorla C, Paci S, Pochiero F et al (2021) Italian national consensus statement on management and pharmacological treatment of phenylketonuria. Orphanet J Rare Dis 16:476. https:\/\/doi.org\/10.1186\/s13023-021-02086-8","journal-title":"Orphanet J Rare Dis"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-023-11703-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-023-11703-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-023-11703-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,13]],"date-time":"2023-07-13T13:04:16Z","timestamp":1689253456000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-023-11703-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,20]]},"references-count":84,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["11703"],"URL":"http:\/\/dx.doi.org\/10.1007\/s00415-023-11703-4","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":["Neurology (clinical)","Neurology"],"published":{"date-parts":[[2023,4,20]]},"assertion":[{"value":"22 December 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 March 2023","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 April 2023","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 April 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":"MM received consulting payments and\/or speaker fees from Sanofi, Amgen, Lilly, MSD, Berlin-Chemie, Novartis, Astra, BioMarin, Akcea, Daiichi-Sankyo, Gilead, Novo and Pfizer. DB had no relevant conflicts of interest to declare. NB received consulting payments from Abbott, Abbvie, Biogen, BioMarin, BridgeBio, Centogene and Zambon and participated as investigator in clinical trials for Bial and Biogen. JC received consulting payments from BioMarin. TM received consulting payments and speaker fees from BioMarin and STADApharm GmbH, participated as investigator in clinical trials for Abide Therapeutics and Roche and received royalties from Elsevier Urban & Fisher. SZ received consulting payments from BioMarin, participated as investigator in clinical trials for Centogene and received speaker fees from Merz Pharmaceutics. ACM received consulting fees, research grants and speaker fees from BioMarin and participated as investigator in clinical trials for BioMarin and PTC.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}}]}} |