{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T08:45:42Z","timestamp":1788425142104,"version":"build-2803163510"},"reference-count":43,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,4,7]],"date-time":"2023-04-07T00:00:00Z","timestamp":1680825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical Inc","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2023,5]]},"DOI":"10.1016\/j.ymgme.2023.107564","type":"journal-article","created":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T19:24:33Z","timestamp":1680377073000},"page":"107564","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":21,"title":["Two years of pegvaliase in Germany: Experiences and best practice recommendations"],"prefix":"10.1016","volume":"139","author":[{"given":"Johannes","family":"Kr\u00e4mer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Baerwald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Heimbold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clemens","family":"Kamrath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus G.","family":"Parhofer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja","family":"Reichert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rutsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Stolz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Weinhold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ania C.","family":"Muntau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2023.107564_bb0005","series-title":"INN-pegvaliase, EMA Summary of Product Characteristics","author":"Palynziq","year":"2022"},{"issue":"1","key":"10.1016\/j.ymgme.2023.107564_bb0010","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1186\/s13023-017-0685-2","article-title":"The complete European guidelines on phenylketonuria: diagnosis and treatment","volume":"12","author":"van Wegberg","year":"2017","journal-title":"Orphanet. J. Rare Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2023.107564_bb0015","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.ymgme.2018.03.006","article-title":"Pegvaliase for the treatment of phenylketonuria: results of a long-term phase 3 clinical trial program (PRISM)","volume":"124","author":"Thomas","year":"2018","journal-title":"Mol. Genet. Metab."},{"issue":"1","key":"10.1016\/j.ymgme.2023.107564_bb0020","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1186\/s13023-020-01391-y","article-title":"PKU dietary handbook to accompany PKU guidelines","volume":"15","author":"MacDonald","year":"2020","journal-title":"Orphanet. J. Rare Dis."},{"issue":"3","key":"10.1016\/j.ymgme.2023.107564_bb0025","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.ymgme.2017.01.001","article-title":"Adherence to clinic recommendations among patients with phenylketonuria in the United States","volume":"120","author":"Jurecki","year":"2017","journal-title":"Mol. Genet. Metab."},{"issue":"2\u20133","key":"10.1016\/j.ymgme.2023.107564_bb0030","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.ymgme.2010.05.017","article-title":"Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence","volume":"101","author":"Enns","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107564_bb0035","first-page":"39","article-title":"Living with phenylketonuria in adulthood: the PKU ATTITUDE study","volume":"16","author":"Cazzorla","year":"2018","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"9","key":"10.1016\/j.ymgme.2023.107564_bb0040","doi-asserted-by":"crossref","DOI":"10.3390\/nu13093118","article-title":"Metabolic control of patients with phenylketonuria in a portuguese metabolic Centre comparing three different recommendations","volume":"13","author":"Kanufre","year":"2021","journal-title":"Nutrients."},{"issue":"1","key":"10.1016\/j.ymgme.2023.107564_bb0045","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1186\/s13023-021-01968-1","article-title":"Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial","volume":"16","author":"Muntau","year":"2021","journal-title":"Orphanet. J. Rare Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2023.107564_bb0050","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgme.2019.04.004","article-title":"International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria","volume":"127","author":"Muntau","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107564_bb0055","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1186\/1477-7525-11-218","article-title":"Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride","volume":"11","author":"Douglas","year":"2013","journal-title":"Health Qual. Life Outcomes"},{"key":"10.1016\/j.ymgme.2023.107564_bb0060","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1186\/s13023-015-0294-x","article-title":"Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries","volume":"10","author":"Bosch","year":"2015","journal-title":"Orphanet. J. Rare Dis."},{"issue":"3","key":"10.1016\/j.ymgme.2023.107564_bb0065","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1080\/03007995.2020.1847717","article-title":"The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers","volume":"37","author":"Burlina","year":"2021","journal-title":"Curr. Med. Res. Opin."},{"issue":"2\u20133","key":"10.1016\/j.ymgme.2023.107564_bb0070","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.ymgme.2015.04.003","article-title":"Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: a longitudinal study","volume":"115","author":"Nardecchia","year":"2015","journal-title":"Mol. Genet. Metab."},{"issue":"3","key":"10.1016\/j.ymgme.2023.107564_bb0075","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1037\/neu0000336","article-title":"The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: effects across tasks and developmental stages","volume":"31","author":"Romani","year":"2017","journal-title":"Neuropsychology."},{"issue":"2","key":"10.1016\/j.ymgme.2023.107564_bb0080","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.gene.2012.05.007","article-title":"Depressive symptoms in adolescents with early and continuously treated phenylketonuria: associations with phenylalanine and tyrosine levels","volume":"504","author":"Sharman","year":"2012","journal-title":"Gene."},{"issue":"3","key":"10.1016\/j.ymgme.2023.107564_bb0085","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1037\/neu0000337","article-title":"Cognitive outcomes in early-treated adults with phenylketonuria (PKU): a comprehensive picture across domains","volume":"31","author":"Palermo","year":"2017","journal-title":"Neuropsychology."},{"issue":"2","key":"10.1016\/j.ymgme.2023.107564_bb0090","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1080\/13803395.2019.1696753","article-title":"Emotional health in early-treated adults with phenylketonuria (PKU): relationship with cognitive abilities and blood phenylalanine","volume":"42","author":"Palermo","year":"2020","journal-title":"J. Clin. Exp. Neuropsychol."},{"key":"10.1016\/j.ymgme.2023.107564_bb0095","article-title":"A comprehensive assessment of neurocognitive and psychological functioning in adults with early-treated phenylketonuria","volume":"1-10","author":"Clocksin","year":"2022","journal-title":"J. Int. Neuropsychol. Soc."},{"issue":"2","key":"10.1016\/j.ymgme.2023.107564_bb0100","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1038\/gim.2013.157","article-title":"Phenylalanine hydroxylase deficiency: diagnosis and management guideline","volume":"16","author":"Vockley","year":"2014","journal-title":"Genet. Med."},{"issue":"1\u20132","key":"10.1016\/j.ymgme.2023.107564_bb0105","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.ymgme.2019.07.018","article-title":"Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria","volume":"128","author":"Zori","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107564_bb0110","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.ymgme.2018.03.003","article-title":"Pegvaliase for the treatment of phenylketonuria: a pivotal, double-blind randomized discontinuation Phase 3 clinical trial","volume":"124","author":"Harding","year":"2018","journal-title":"Mol. Genet. Metab."},{"issue":"8","key":"10.1016\/j.ymgme.2023.107564_bb0115","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1038\/s41436-018-0403-z","article-title":"Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria","volume":"21","author":"Longo","year":"2019","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2023.107564_bb0120","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2019.05.006","article-title":"Pegvaliase: immunological profile and recommendations for the clinical management of hypersensitivity reactions in patients with phenylketonuria treated with this enzyme substitution therapy","author":"Hausmann","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107564_bb0125","article-title":"Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase","volume":"28","author":"Rocha","year":"2021","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"4","key":"10.1016\/j.ymgme.2023.107564_bb0130","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.ymgme.2021.06.002","article-title":"Nutrition status of adults with phenylketonuria treated with pegvaliase","volume":"133","author":"Viau","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107564_bb0135","doi-asserted-by":"crossref","first-page":"145","DOI":"10.2147\/NDS.S337135","article-title":"Normalizing diet in individuals with phenylketonuria treated with pegvaliase: a case series and patient perspective","volume":"13","author":"Bernstein","year":"2021","journal-title":"Nutr. Diet. Suppl."},{"key":"10.1016\/j.ymgme.2023.107564_bb0140","article-title":"A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: a study of patients\u2019 preferences","volume":"21","author":"SriBhashyam","year":"2019","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"1","key":"10.1016\/j.ymgme.2023.107564_bb0145","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1186\/s13023-020-01668-2","article-title":"The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study","volume":"16","author":"Burgess","year":"2021","journal-title":"Orphanet. J. Rare Dis."},{"issue":"3","key":"10.1016\/j.ymgme.2023.107564_bb0150","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.ymgme.2013.07.010","article-title":"White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria","volume":"110","author":"White","year":"2013","journal-title":"Mol. Genet. Metab."},{"issue":"2","key":"10.1016\/j.ymgme.2023.107564_bb0155","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.ymgme.2013.03.020","article-title":"White matter integrity and executive abilities in individuals with phenylketonuria","volume":"109","author":"Antenor-Dorsey","year":"2013","journal-title":"Mol. Genet. Metab."},{"issue":"2","key":"10.1016\/j.ymgme.2023.107564_bb0160","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/S0022-3476(95)70303-9","article-title":"Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change","volume":"127","author":"Cleary","year":"1995","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2023.107564_bb0165","doi-asserted-by":"crossref","first-page":"561","DOI":"10.3389\/fpsyt.2019.00561","article-title":"Psychiatric and cognitive aspects of phenylketonuria: the limitations of diet and promise of new treatments","volume":"10","author":"Ashe","year":"2019","journal-title":"Front. Psychiatry."},{"key":"10.1016\/j.ymgme.2023.107564_bb0170","article-title":"Use of pegvaliase in the management of phenylketonuria: case series of early experience in US clinics","volume":"28","author":"Adams","year":"2021","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"3","key":"10.1016\/j.ymgme.2023.107564_bb0175","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1002\/ajmg.a.62574","article-title":"Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria","volume":"188","author":"Bilder","year":"2022","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2023.107564_bb0180","article-title":"First 1.5 years of pegvaliase clinic: experiences and outcomes","volume":"24","author":"Sacharow","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2023.107564_bb0185","article-title":"A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials","volume":"29","author":"Burton","year":"2021","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"2","key":"10.1016\/j.ymgme.2023.107564_bb0190","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.ymgme.2022.04.004","article-title":"The management of transitional care of patients affected by phenylketonuria in Italy: review and expert opinion","volume":"136","author":"Giacomo","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107564_bb0195","article-title":"Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower doses","volume":"32","author":"Vucko","year":"2022","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"1\u20132","key":"10.1016\/j.ymgme.2023.107564_bb0200","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.ymgme.2022.08.001","article-title":"Pegvaliase dosing in adults with PKU: requisite dose for efficacy decreases over time","volume":"137","author":"Hollander","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107564_bb0205","article-title":"Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: evidence from dispensing data","volume":"33","author":"Lah","year":"2022","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2023.107564_bb0210","article-title":"Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: a case report","volume":"22","author":"Rohr","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"5","key":"10.1016\/j.ymgme.2023.107564_bb0215","doi-asserted-by":"crossref","first-page":"1894","DOI":"10.1111\/cts.13043","article-title":"Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria","volume":"14","author":"Qi","year":"2021","journal-title":"Clin. Transl. Sci."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719223001944?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719223001944?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:53:17Z","timestamp":1761090797000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719223001944"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5]]},"references-count":43,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["S1096719223001944"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2023.107564","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2023,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Two years of pegvaliase in Germany: Experiences and best practice recommendations","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2023.107564","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 BioMarin Deutschland GmbH and BioMarin Pharmaceutical Inc. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"107564"}}