{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T08:50:48Z","timestamp":1788425448939,"version":"build-2803163510"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2022,6,21]],"date-time":"2022-06-21T00:00:00Z","timestamp":1655769600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,6,21]],"date-time":"2022-06-21T00:00:00Z","timestamp":1655769600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100003970","name":"Isfahan University of Medical Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003970","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2022,9]]},"DOI":"10.1007\/s10072-022-06194-6","type":"journal-article","created":{"date-parts":[[2022,6,21]],"date-time":"2022-06-21T15:39:42Z","timestamp":1655825982000},"page":"5593-5603","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Cognitive function in untreated subjects with mild hyperphenylalaninemia: a systematic review"],"prefix":"10.1007","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3262-5748","authenticated-orcid":false,"given":"Noushin","family":"Rostampour","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8505-1728","authenticated-orcid":false,"given":"Rojin","family":"Chegini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8548-781X","authenticated-orcid":false,"given":"Silva","family":"Hovsepian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farzaneh","family":"Zamaneh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6032-5523","authenticated-orcid":false,"given":"Mahin","family":"Hashemipour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,6,21]]},"reference":[{"issue":"5","key":"6194_CR1","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1111\/j.1469-8749.2010.03869.x","volume":"53","author":"J Campistol","year":"2011","unstructured":"Campistol J, Gassio R, Artuch R, Vilaseca MA, PFu Unit, (2011) Neurocognitive function in mild hyperphenylalaninemia. Dev Med Child Neurol 53(5):405\u2013408","journal-title":"Dev Med Child Neurol"},{"issue":"6","key":"6194_CR2","doi-asserted-by":"publisher","first-page":"617","DOI":"10.24953\/turkjped.2018.06.001","volume":"60","author":"SG Evinc","year":"2018","unstructured":"Evinc SG, Pektas E, Foto-Ozdemir D, Yildiz Y, Karaboncuk y, Bilginer-Gurbuz b et al (2018) Cognitive and behavioral impairment in mild hyperphenylalaninemia. Turk J Pediatr 60(6):617\u2013624","journal-title":"Turk J Pediatr"},{"issue":"3","key":"6194_CR3","first-page":"267","volume":"115","author":"MBG Garcia","year":"2017","unstructured":"Garcia MBG, Conde-Guzon P, Martin CA, Conde-Guzon MJ, Zuniga RV (2017) Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels. Archivos Argentinos De Pediatria 115(3):267\u2013273","journal-title":"Archivos Argentinos De Pediatria"},{"issue":"5","key":"6194_CR4","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1007\/s40265-019-01079-z","volume":"79","author":"U Lichter-Konecki","year":"2019","unstructured":"Lichter-Konecki U, Vockley J (2019) Phenylketonuria: current treatments and future developments. Drugs 79(5):495\u2013500","journal-title":"Drugs"},{"issue":"2","key":"6194_CR5","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, Burlina A, Burton BK, Carducci C et al (2020) The genetic landscape and epidemiology of phenylketonuria. Am J Hum Genet 107(2):234\u2013250","journal-title":"Am J Hum Genet"},{"issue":"6","key":"6194_CR6","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1586\/14737159.2014.923760","volume":"14","author":"N Blau","year":"2014","unstructured":"Blau N, Shen N, Carducci C (2014) Molecular genetics and diagnosis of phenylketonuria: state of the art. Expert Rev Mol Diagn 14(6):655\u2013671","journal-title":"Expert Rev Mol Diagn"},{"issue":"3","key":"6194_CR7","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1007\/s10545-011-9283-y","volume":"34","author":"FJ van Spronsen","year":"2011","unstructured":"van Spronsen FJ (2011) Mild hyperphenylalaninemia: to treat or not to treat. J Inherit Metab Dis 34(3):651\u2013656","journal-title":"J Inherit Metab Dis"},{"key":"6194_CR8","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1016\/j.ymgmr.2015.10.009","volume":"5","author":"A de la Parra","year":"2015","unstructured":"de la Parra A, Garcia MI, Waisbren SE, Cornejo V, Raimann E (2015) Cognitive functioning in mild hyperphenylalaninemia. Mol Genet Metab Rep 5:72\u201375","journal-title":"Mol Genet Metab Rep"},{"issue":"1-2","key":"6194_CR9","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1016\/j.ymgme.2011.05.007","volume":"104","author":"W Hanley","year":"2011","unstructured":"Hanley W (2011) Non-PKU mild hyperphenylalaninemia (MHP)\u2014The dilemma. Mol Genet Metab 104(1\u20132):23\u201326","journal-title":"Mol Genet Metab"},{"issue":"9","key":"6194_CR10","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1016\/S2213-8587(17)30201-2","volume":"5","author":"P Burgard","year":"2017","unstructured":"Burgard P, Ullrich K, Ballhausen D, Hennermann JB, Hollak CE, Langeveld M et al (2017) Issues with European guidelines for phenylketonuria. Lancet Diabetes Endocrinol 5(9):681\u2013683","journal-title":"Lancet Diabetes Endocrinol"},{"issue":"1","key":"6194_CR11","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-016-0551-7","volume":"12","author":"A Van Wegberg","year":"2017","unstructured":"Van Wegberg A, MacDonald A, Ahring K, B\u00e9langer-Quintana A, Blau N, Bosch A et al (2017) The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis 12(1):1\u201356","journal-title":"Orphanet J Rare Dis"},{"issue":"8","key":"6194_CR12","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1097\/GIM.0b013e3182141b48","volume":"13","author":"JJ Mitchell","year":"2011","unstructured":"Mitchell JJ, Trakadis YJ, Scriver CR (2011) Phenylalanine hydroxylase deficiency. Genet Med: Off J Am Coll Med Genet 13(8):697\u2013707","journal-title":"Genet Med: Off J Am Coll Med Genet"},{"issue":"5","key":"6194_CR13","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1016\/j.ijsu.2010.02.007","volume":"8","author":"D Moher","year":"2010","unstructured":"Moher D, Liberati A, Tetzlaff J, Altman DG (2010) Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. Int J Surg 8(5):336\u2013341","journal-title":"Int J Surg"},{"issue":"3","key":"6194_CR14","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1080\/0167482X.2018.1470619","volume":"40","author":"Z Bajalan","year":"2019","unstructured":"Bajalan Z, Moafi F, MoradiBaglooei M, Alimoradi Z (2019) Mental health and primary dysmenorrhea: a systematic review. J Psychosom Obstet Gynecol 40(3):185\u2013194","journal-title":"J Psychosom Obstet Gynecol&nbsp;"},{"issue":"12","key":"6194_CR15","doi-asserted-by":"publisher","first-page":"1495","DOI":"10.1016\/j.ijsu.2014.07.013","volume":"12","author":"E Von Elm","year":"2014","unstructured":"Von Elm E, Altman DG, Egger M, Pocock SJ, G\u00f8tzsche PC, Vandenbroucke JP et al (2014) The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement: guidelines for reporting observational studies. Int J Surg 12(12):1495\u20131499","journal-title":"Int J Surg"},{"issue":"8","key":"6194_CR16","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1056\/NEJM197108192850802","volume":"285","author":"H Levy","year":"1971","unstructured":"Levy H, Shih V, Karolkewicz V, French W, Carr J, Cass V, et al (1971) Persistent Mild Hyperphenylalaninemia in the Untreated State. A Prospective Study. N Engl J Med 285(8):424\u20139","journal-title":"N Engl J Med"},{"issue":"6","key":"6194_CR17","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1016\/S0022-3476(84)80088-8","volume":"105","author":"S Waisbren","year":"1984","unstructured":"Waisbren S, Schnell R, Levy H (1984) Intelligence and personality characteristics in adults with \nuntreated atypical phenylketonuria and mild hyperphenylalaninemia. J Pediatr 105(6):955\u2013958","journal-title":"J Pediatr"},{"issue":"3","key":"6194_CR18","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1203\/00006450-199709000-00020","volume":"42","author":"J Weglage","year":"1997","unstructured":"Weglage J, Ullrich K, Pietsch M, F\u00fcnders B, G\u00fcttler F, Harms E (1997) Intellectual, neurologic, and\nneuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. Pediatr Res 42(3):378\u2013384","journal-title":"Pediatr Res"},{"key":"6194_CR19","doi-asserted-by":"crossref","unstructured":"Diamond A, Prevor MB, Callender G, Druin DP (1997) Prefrontal cortex cognitive deficits in children treated early and continuously for PKU. Monogr Soc Res Child Dev i-206.","DOI":"10.2307\/1166208"},{"issue":"4","key":"6194_CR20","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1203\/00006450-200104000-00015","volume":"49","author":"J Weglage","year":"2001","unstructured":"Weglage J, Pietsch M, Feldmann R, Koch H-G, Zschocke J, Hoffmann G et al (2001) Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia. Pediatr Res 49(4):532\u2013536","journal-title":"Pediatr Res"},{"issue":"2","key":"6194_CR21","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1352\/0895-8017(2000)105<0069:NFIMH>2.0.CO;2","volume":"105","author":"M Lou Smith","year":"2000","unstructured":"Lou Smith M, Saltzman J, Klim P, Hanley WB, Feigenbaum A, Clarke JT (2000) Neuropsychological function in mild hyperphenylalaninemia. Am J Ment Retard 105(2):69\u201380","journal-title":"Am J Ment Retard"},{"issue":"5","key":"6194_CR22","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1007\/s10519-017-9863-1","volume":"47","author":"R Jahja","year":"2017","unstructured":"Jahja R, van Spronsen FJ, De Sonneville LM, van der Meere JJ, Bosch AM, Hollak CE et al (2017) Long-term follow-up of cognition and mental health in adult phenylketonuria: a PKU-COBESO study. Behav Genet 47(5):486\u2013497","journal-title":"Behav Genet"},{"issue":"4","key":"6194_CR23","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1016\/j.ymgme.2011.09.021","volume":"104","author":"ML Couce","year":"2011","unstructured":"Couce ML, Castineiras DE, Boveda MD, Bana A, Cocho JA, Iglesias AJ et al (2011) Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme. Mol Genet Metab 104(4):470\u2013475","journal-title":"Mol Genet Metab"},{"issue":"7","key":"6194_CR24","first-page":"751","volume":"131","author":"C Netley","year":"1984","unstructured":"Netley C, Hanley W, Rudner H (1984) Phenylketonuria and its variants: observations on intellectual functioning. Can Med Assoc J 131(7):751","journal-title":"Can Med Assoc J"},{"issue":"7","key":"6194_CR25","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1017\/S0012162205000861","volume":"47","author":"R Gassi\u00f3","year":"2005","unstructured":"Gassi\u00f3 R, Artuch R, Vilaseca MA, Fust\u00e9 E, Boix C, Sans A et al (2005) Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. Dev Med Child Neurol 47(7):443\u2013448","journal-title":"Dev Med Child Neurol"},{"issue":"4","key":"6194_CR26","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1007\/BF01954515","volume":"153","author":"PM Costello","year":"2011","unstructured":"Costello PM, Beasley MG, Tillotson SL, Smith I (1994) Intelligence in mild atypical phenylketonuria. Eur J Pediatr 153(4):260\u2013263","journal-title":"Eur J Pediatr"},{"issue":"12","key":"6194_CR27","first-page":"1464","volume":"143","author":"MJ Lang","year":"1989","unstructured":"Lang MJ, Koch R, Fishier K, Baker R (1989) Nonphenylketonuric hyperphenylalaninemia. Am J Dis Child 143(12):1464\u20131466","journal-title":"Am J Dis Child"},{"issue":"3","key":"6194_CR28","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1016\/j.clinbiochem.2013.11.004","volume":"47","author":"U Groselj","year":"2014","unstructured":"Groselj U, Tansek MZ, Podkrajsek KT, Battelino T (2014) Mutation analysis in mild hyperphenylalaninemia (HPA) patients-whom and what to screen? Clin Biochem 47(3):236","journal-title":"Clin Biochem"},{"issue":"3","key":"6194_CR29","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1080\/01688639608408992","volume":"18","author":"J Weglage","year":"1996","unstructured":"Weglage J, Schmidt E, F\u00fcnders B, Pietsch M, Ullrich K (1996) Sustained attention in untreated non-PKU-hyperphenylalaninemia. J Clin Exp Neuropsychol 18(3):343\u2013348","journal-title":"J Clin Exp Neuropsychol"},{"issue":"1","key":"6194_CR30","doi-asserted-by":"publisher","first-page":"S26","DOI":"10.1007\/PL00014244","volume":"155","author":"J Weglage","year":"1996","unstructured":"Weglage J, Ullrich K, Pietsch M, F\u00fcnders B, Zass R, Koch H (1996) Untreated non-phenylketonuric-hyperphenylalaninaemia: intellectual and neurological outcome. Eur J Pediatr 155(1):S26\u2013S28","journal-title":"Eur J Pediatr"},{"key":"6194_CR31","doi-asserted-by":"publisher","first-page":"924","DOI":"10.1542\/peds.28.6.924","volume":"28","author":"PW Berman","year":"1961","unstructured":"Berman PW, Graham FK, Eichman PL, Waisman HA (1961) Psychologic and neurologic status of diet-treated phenylketonuric children and their sibligs. Pediatrics 28:924\u2013934","journal-title":"Pediatrics"},{"issue":"2","key":"6194_CR32","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1006\/mgme.1997.2619","volume":"63","author":"R Koch","year":"1998","unstructured":"Koch R, G\u00fcttler F, Guldberg P, Rouse B (1998) Mild hyperphenylalaninemia and heterozygosity of the phenylalanine hydroxylase gene. Mol Genet Metab 63(2):148\u2013150","journal-title":"Mol Genet Metab"},{"key":"6194_CR33","doi-asserted-by":"publisher","first-page":"S20","DOI":"10.1007\/PL00014243","volume":"155","author":"H Levy","year":"1996","unstructured":"Levy H, Waisbren S, Lobbregt D, Allred E, Leviton A, Koch R et al (1996) Maternal non-phenylketonuric mild hyperphenylalaninemia. Eur J Pediatr 155:S20\u2013S25","journal-title":"Eur J Pediatr"},{"issue":"4","key":"6194_CR34","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1016\/j.ymgme.2017.10.010","volume":"122","author":"S Viall","year":"2017","unstructured":"Viall S, Ayyub O, Rasberry M, Lyons K, Mew NA (2017) \u201cMild\u201d hyperphenylalaninemia? A case series of seven treated patients following newborn screening. Mol Genet Metab 122(4):153\u2013155","journal-title":"Mol Genet Metab"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-022-06194-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-022-06194-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-022-06194-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,17]],"date-time":"2022-08-17T11:21:27Z","timestamp":1660735287000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-022-06194-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,21]]},"references-count":34,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["6194"],"URL":"https:\/\/doi.org\/10.1007\/s10072-022-06194-6","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,21]]},"assertion":[{"value":"26 January 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 June 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 June 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was accepted by Isfahan University of medical sciences' Ethics Committee with the code number of IR.MUI.MED.REC.1400.685.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}