Reference health

Long‐term cognitive and psychosocial outcomes in adults with phenylketonuria

https://doi.org/10.1002/jimd.12413
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44/44 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.

12 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 44 checked references that resolve
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The Political History of PKU: Reflections on 50 Years of Newborn Screening
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The time consuming nature of phenylketonuria: A cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands
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Blood phenylalanine control in phenylketonuria: a survey of 10 European centres
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The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review
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A systematic review of cognitive functioning in early treated adults with phenylketonuria
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Neuropsychological outcome of subjects participating in the PKU Adult Collaborative Study: A preliminary review
resolves10.1037/neu0000337
Cognitive outcomes in early-treated adults with phenylketonuria (PKU): A comprehensive picture across domains.
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Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: A meta-analysis
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Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.
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Executive Functioning, Memory, and Learning in Phenylketonuria.
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The influence of blood phenylalanine levels on neurocognitive function in adult PKU patients
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Neuropsychologic Functions of Early Treated Patients with Phenylketonuria, on and off Diet: Results of a Cross-National and Cross-Sectional Study
resolves10.1186/s13023-019-1225-z
Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels
resolves10.1136/adc.2006.104786
Effects of dietary management of phenylketonuria on long-term cognitive outcome
resolves10.1186/s13023-015-0294-x
Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries
resolves10.1007/s10545-006-0433-6
The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria
resolves10.1023/A:1005669610722
Behaviour and school achievement in patients with early and continuously treated phenylketonuria
resolves10.1186/s13023-016-0410-6
Ten years of specialized adult care for phenylketonuria – a single-centre experience
resolves10.1007/s10545-009-1253-2
Remarkable differences: the course of life of young adults with galactosaemia and PKU
resolves10.1016/j.ymgme.2013.09.015
Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study
resolves10.1186/1471-2458-14-1243
Quality of Life (QoL) assessment in a cohort of patients with Phenylketonuria
resolves10.1016/j.ymgme.2017.03.002
Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study
resolves10.1007/s10545-016-9918-0
Social‐cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU‐COBESO study
resolves10.1542/peds.99.3.345
Psychiatric Disorders in Adult Patients With Early-treated Phenylketonuria
resolves10.1186/1477-7525-6-25
Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU)
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Familial Studies of Intelligence: A Review
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Aspects of the inheritance of intellectual abilities
resolves10.1016/j.ymgme.2018.12.011
Neurocognitive functioning in adults with phenylketonuria: Report of a 10-year follow-up
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Validity of the Symbol Digit Modalities Test as a cognition performance outcome measure for multiple sclerosis
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The Validity and Reproducibility of a Work Productivity and Activity Impairment Instrument
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The MOS 36-ltem Short-Form Health Survey (SF-36)
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On Being Insecure about the Assessment of Attachment Styles
resolves10.1093/arclin/acn001
To Err is Human: "Abnormal" Neuropsychological Scores and Variability are Common in Healthy Adults
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resolves10.1037/0894-4105.21.4.419
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resolves10.1186/s13023-017-0685-2
The complete European guidelines on phenylketonuria: diagnosis and treatment
resolves10.1523/JNEUROSCI.1553-10.2010
A General Factor of Brain White Matter Integrity Predicts Information Processing Speed in Healthy Older People
resolves10.1007/BF01954515
Intelligence in mild atypical phenylketonuria
resolves10.1037/neu0000336
The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: Effects across tasks and developmental stages.
resolves10.1016/j.ymgme.2018.07.002
The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study
resolves10.1007/s10897-018-0227-7
Parenting a Child with Phenylketonuria (PKU): an Interpretative Phenomenological Analysis (IPA) of the Experience of Parents
resolves10.1080/13803395.2019.1696753
Emotional health in early-treated adults with phenylketonuria (PKU): Relationship with cognitive abilities and blood phenylalanine
The 12 references without a DOI — listed, not checked
no DOI — not checkedIntegration of adult patients with phenylketonuria into professional life: long‐term follow‐up of 27 patients in a single centre in Switzerland
no DOI — not checkedWechsler Adult Intelligence Scale – Fourth Edition
no DOI — not checkedCalifornia Auditory‐Verbal Learning Test – Second Edition (CVLT‐II)
no DOI — not checkedDelis‐Kaplan Executive Function System (D‐Kefs)
no DOI — not checkedSymbol Digit Modalities Test: Manual
no DOI — not checkedThe National Statistics Socio‐Economic Classification: User Manual
no DOI — not checkedSF‐36 Health Survey: Manual and Interpretation Guide
no DOI — not checkedThe hospital anxiety and depression scale
no DOI — not checkedA global measure of perceived stress
no DOI — not checkedAdvances in Personal Relationships Volume 5: Attachment Processes in Adulthood
no DOI — not checkedTreatment of Missing Data
no DOI — not checkedPredictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines
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