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Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines
50/50 checkable references clean · checked 2026-07-22
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
2 without a DOI — not checked. A reference deposited without a DOI is never matched by title or guessed at; it stays outside the checked set, and this line discloses that.
The 50 checked references that resolve
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Key European guidelines for the diagnosis and management of patients with phenylketonuria
resolves10.1080/87565640802101482
Twenty-Five Years of Research on Neurocognitive Outcomes in Early-Treated Phenylketonuria: Intelligence and Executive Function
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Cognitive outcomes in early-treated adults with phenylketonuria (PKU): A comprehensive picture across domains.
resolves10.1016/j.ymgme.2015.08.005
The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study
resolves10.1002/jimd.12065
The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review
resolves10.1016/j.ymgme.2019.05.017
Clinical characterization of tremor in patients with phenylketonuria
resolves10.1056/NEJMoa021654
Tetrahydrobiopterin as an Alternative Treatment for Mild Phenylketonuria
resolves10.1016/j.jpeds.2008.11.040
Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study
resolves10.1093/hmg/ddy079
Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism
resolves10.1016/j.ymgme.2009.10.016
Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses☆
resolves10.1016/j.ymgme.2007.05.006
Phenylalanine blood levels and clinical outcomes in phenylketonuria: A systematic literature review and meta-analysis
resolves10.1016/j.neubiorev.2008.11.001
Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: A meta-analysis
resolves10.1007/s10545-012-9564-0
Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta‐analysis
resolves10.1016/j.ymgme.2011.09.036
Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: A start toward standardized outcome measurement across development
resolves10.1016/j.ymgme.2013.09.001
Fluctuations in phenylalanine concentrations in phenylketonuria: A review of possible relationships with outcomes
resolves10.1080/87565641.2016.1243109
Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria
resolves10.1037/neu0000336
The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: Effects across tasks and developmental stages.
resolves10.1007/s11011-018-0267-6
The influence of blood phenylalanine levels on neurocognitive function in adult PKU patients
resolves10.1186/s13023-018-0893-4
A systematic review of cognitive functioning in early treated adults with phenylketonuria
resolves10.1111/j.1651-2227.1954.tb04000.x
The Influence of Phenylalanine Intake on the Chemistry and Behaviour of a Phenylketonuria Child
resolves10.1111/j.1440-1754.1991.tb00384.x
The natural history of untreated phenylketonuria over 20 years
resolves10.1016/S0140-6736(74)91873-X
NATURAL HISTORY OF PHENYLKETONURIA AND INFLUENCE OF EARLY TREATMENT
resolves10.1056/NEJM198311243092101
Effects of Untreated Maternal Phenylketonuria and Hyperphenylalaninemia on the Fetus
resolves10.1136/jmg.30.5.401
Comparison of genotype and intellectual phenotype in untreated PKU patients.
resolves10.1186/s13023-018-0890-7
Can untreated PKU patients escape from intellectual disability? A systematic review
resolves10.2307/1166208
Prefrontal Cortex Cognitive Deficits in Children Treated Early and Continuously for PKU
resolves10.1016/j.jpeds.2013.12.015
Neurocognitive Evidence for Revision of Treatment Targets and Guidelines for Phenylketonuria
resolves10.1023/A:1005664231017
Behavioural and emotional problems in early‐treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls
resolves10.1002/mrdd.10031
The epidemiology of mental retardation: Challenges and opportunities in the new millennium
resolves10.1038/gim.2013.157
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
resolves10.1186/s13023-017-0685-2
The complete European guidelines on phenylketonuria: diagnosis and treatment
resolves10.1023/B:BOLI.0000028781.94251.1f
Executive function impairment in early‐treated PKU subjects with normal mental development
resolves10.1007/s11065-007-9021-2
Meta-Analysis of Neuropsychological Symptoms of Adolescents and Adults with PKU
resolves10.1007/s10519-017-9863-1
Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study
resolves10.1007/s10545-016-9918-0
Social‐cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU‐COBESO study
resolves10.1080/02643294.2017.1320278
Speed of processing and executive functions in adults with phenylketonuria: Quick in finding the word, but not the ladybird
resolves10.1016/S0140-6736(13)61841-3
Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial
resolves10.1016/j.ymgme.2018.03.006
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)
resolves10.1007/s10545-017-0082-y
Predictability and inconsistencies in the cognitive outcome of early treated PKU patients
resolves10.1016/j.ymgme.2015.04.003
Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study
resolves10.3389/fped.2014.00057
Age-Related Psychophysiological Vulnerability to Phenylalanine in Phenylketonuria
resolves10.1017/S0033291717001398
Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria
The 2 references without a DOI — listed, not checked
no DOI — not checkedOutcome of treatment in young adults with phenylketonuria detected by routine neonatal screening between 1964 and 1971
no DOI — not checkedSight-tThreatening phenylketonuric encephalopathy in a young adult, reversed by diet
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