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Phenylalanine Effects on Brain Function in Adult Phenylketonuria
46/46 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.
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The 46 checked references that resolve
resolves10.1016/j.jpeds.2013.12.015
Neurocognitive Evidence for Revision of Treatment Targets and Guidelines for Phenylketonuria
resolves10.1007/s00431-014-2458-4
Management of adult patients with phenylketonuria: survey results from 24 countries
resolves10.1212/01.wnl.0000204415.39853.4a
Global and regional volume changes in the brains of patients with phenylketonuria
resolves10.1016/j.ymgme.2016.02.004
Morphometric analysis of gray matter integrity in individuals with early-treated phenylketonuria
resolves10.1016/j.ymgme.2013.08.013
Neurocognitive functioning in adults with phenylketonuria: Results of a long term study
resolves10.1002/jimd.12049
Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria
resolves10.1002/jimd.12065
The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review
resolves10.1007/s11011-018-0267-6
The influence of blood phenylalanine levels on neurocognitive function in adult PKU patients
resolves10.1038/nchembio.1002
Phenylalanine assembly into toxic fibrils suggests amyloid etiology in phenylketonuria
resolves10.1016/S2213-8587(16)30320-5
Key European guidelines for the diagnosis and management of patients with phenylketonuria
resolves10.1038/gim.2013.157
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
resolves10.1186/s13023-020-1329-5
Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation
resolves10.1002/mds.27035
Application of the movement disorder society prodromal Parkinson's disease research criteria in 2 independent prospective cohorts
resolves10.1159/000446802
Exploring Olfactory Function and Its Relation with Behavioral and Cognitive Impairment in Amyotrophic Lateral Sclerosis Patients: A Cross-Sectional Study
resolves10.1007/s00415-015-7888-z
Autonomic dysfunction in subjects at high risk for Parkinson’s disease
resolves10.1016/0013-4694(86)90145-8
Electrical stimulation over the human vertebral column: which neural elements are excited?
resolves10.1002/mds.27199
Cognitive impairment in Glucocerebrosidase (GBA)‐associated PD: Not primarily associated with cerebrospinal fluid Abeta and Tau profiles
resolves10.2214/ajr.149.2.351
MR signal abnormalities at 1.5 T in Alzheimer's dementia and normal aging
resolves10.1016/j.ymgme.2017.03.002
Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study
resolves10.1186/s13023-019-1153-y
Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data
resolves10.1017/S0033291717001398
Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria
resolves10.1016/j.ymgme.2012.10.021
Visual functions in phenylketonuria—evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses
resolves10.1016/j.ymgme.2018.12.011
Neurocognitive functioning in adults with phenylketonuria: Report of a 10-year follow-up
resolves10.1186/s13023-018-0893-4
A systematic review of cognitive functioning in early treated adults with phenylketonuria
resolves10.1007/s10545-010-9253-9
High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double‐blind, placebo‐controlled, crossover trial
resolves10.1016/j.ymgme.2011.05.017
PKU: High plasma phenylalanine concentrations are associated with increased prevalence of mood swings
resolves10.1007/s10545-016-9918-0
Social‐cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU‐COBESO study
resolves10.1093/brain/awz111
Evolution of prodromal Parkinson’s disease and dementia with Lewy bodies: a prospective study
resolves10.1136/jnnp-2019-320846
Orthostatic hypotension and REM sleep behaviour disorder: impact on clinical outcomes in α-synucleinopathies
resolves10.1007/s10545-008-0946-2
Brain dysfunction in phenylketonuria: Is phenylalanine toxicity the only possible cause?
resolves10.1371/journal.pone.0100784
Variability of CSF Alzheimer’s Disease Biomarkers: Implications for Clinical Practice
resolves10.3233/JAD-121969
Overlap between Frontotemporal Dementia and Alzheimer's Disease: Cerebrospinal Fluid Pattern and Neuroimaging Study
resolves10.1016/j.neuron.2016.07.007
Neurofilament Light Chain in Blood and CSF as Marker of Disease Progression in Mouse Models and in Neurodegenerative Diseases
resolves10.1016/j.ymgme.2012.08.007
A volumetric study of basal ganglia structures in individuals with early-treated phenylketonuria
resolves10.3233/JAD-2010-100678
Increased Cortical Thickness and Caudate Volume Precede Atrophy in PSEN1 Mutation Carriers
resolves10.1007/s00259-019-04324-5
Extrastriatal dopaminergic and serotonergic pathways in Parkinson’s disease and in dementia with Lewy bodies: a 123I-FP-CIT SPECT study
The 1 reference without a DOI — listed, not checked
no DOI — not checkedEvans S, Daly A, Chahal S, et al. The influence of parental food preference and neophobia on children with phenylketonuria (PKU). Mol Genet Metab Rep 2018;14:10–14.
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