[HTML][HTML] The impact of metabolic control on cognition, neurophysiology, and well-being in PKU: A systematic review and meta-analysis of the within-participant …
L Thomas, A Olson, C Romani - Molecular Genetics and Metabolism, 2023 - Elsevier
Phenylketonuria (PKU) is a metabolic disease where Phenylalanine (Phe) rises much above
normal levels. Cross-sectional and correlational studies provide valuable information on the …
normal levels. Cross-sectional and correlational studies provide valuable information on the …
Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review
A De Giorgi, F Nardecchia, F Manti, J Campistol… - Molecular Genetics and …, 2023 - Elsevier
Lacking direct neuropathological data, neuroimaging exploration has become the most
powerful tool to give insight into pathophysiological alterations of early-treated PKU …
powerful tool to give insight into pathophysiological alterations of early-treated PKU …
Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids
Phenylketonuria (PKU) is a common genetic metabolic disorder that causes phenylalanine
accumulation in the blood. The most serious symptoms are related to the brain, as …
accumulation in the blood. The most serious symptoms are related to the brain, as …
The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria
T Mainka, JF Fischer, J Huebl, A Jung, D Lier… - Parkinsonism & Related …, 2021 - Elsevier
Introduction Phenylketonuria (PKU) is a rare, treatable inborn error of metabolism with
frequent neurological and neuropsychiatric complications, especially in undiagnosed or …
frequent neurological and neuropsychiatric complications, especially in undiagnosed or …
Effect of Menopause Status on Brain Perfusion Hemodynamics
W Guo, X Wang, Y Chen, F Wang, J Qiu, W Lu - Stroke, 2024 - Am Heart Assoc
BACKGROUND: The menopause transition is associated with an increasing risk of
cerebrovascular disorders. However, the direct effect of menopause status on brain …
cerebrovascular disorders. However, the direct effect of menopause status on brain …
Microstructure of brain nuclei in early Parkinson's disease: longitudinal diffusion kurtosis imaging
Background: Diffusion kurtosis imaging provides in vivo measurement of microstructural
tissue characteristics and could help guide management of Parkinson's disease. Objective …
tissue characteristics and could help guide management of Parkinson's disease. Objective …
Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels
J Pardo, C Capdevila-Lacasa, B Segura… - Journal of …, 2024 - Springer
Background Continued dietary treatment since early diagnosis through newborn screening
programs usually prevents brain-related complications in phenylketonuria (PKU). However …
programs usually prevents brain-related complications in phenylketonuria (PKU). However …
[HTML][HTML] Current and Future Developments in Imaging and Treatment of White Matter Disease: A Systematic Review
The elderly often suffer from" mild" dementia due to white matter disease, which is another
name for repeated brain infarctions. The degeneration of white matter, which links various …
name for repeated brain infarctions. The degeneration of white matter, which links various …
Neuropsychological outcomes in phenylketonuria.
C Romani, L Thomas, S Huijbregts - 2023 - psycnet.apa.org
Phenylketonuria (PKU) is an autosomal recessive genetic disease with an incidence of
about 1: 10,000 to 1: 15,000 worldwide. It is characterized by mutations on gene that codes …
about 1: 10,000 to 1: 15,000 worldwide. It is characterized by mutations on gene that codes …