Phenylketonuria
N Blau, FJ Van Spronsen, HL Levy - The Lancet, 2010 - thelancet.com
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid
metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes …
metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes …
[HTML][HTML] Phenylketonuria: a review of current and future treatments
N Al Hafid, J Christodoulou - Translational pediatrics, 2015 - ncbi.nlm.nih.gov
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism caused by a
deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH). If left untreated, the …
deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH). If left untreated, the …
Psychiatric and cognitive aspects of phenylketonuria: the limitations of diet and promise of new treatments
Phenylketonuria (PKU) is a recessive disorder of phenylalanine metabolism due to
mutations in the gene for phenylalanine hydroxylase (PAH). Reduced PAH activity results in …
mutations in the gene for phenylalanine hydroxylase (PAH). Reduced PAH activity results in …
The top and the bottom of ADHD: a neuropsychological perspective
Five models of attention deficit/hyperactivity disorder (ADHD) are reviewed. It is proposed
that the cognitive-energetic model provides a reasonably comprehensive account of ADHD …
that the cognitive-energetic model provides a reasonably comprehensive account of ADHD …
Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis
SE Waisbren, K Noel, K Fahrbach, C Cella… - Molecular genetics and …, 2007 - Elsevier
Blood phenylalanine (Phe) levels provide a practical and reliable method for the diagnosis
and monitoring of metabolic status in patients with phenylketonuria (PKU). To assess the …
and monitoring of metabolic status in patients with phenylketonuria (PKU). To assess the …
Aspartame: review of safety
HH Butchko, WW Stargel, CP Comer… - Regulatory Toxicology …, 2002 - Elsevier
Over 20 years have elapsed since aspartame was approved by regulatory agencies as a
sweetener and flavor enhancer. The safety of aspartame and its metabolic constituents was …
sweetener and flavor enhancer. The safety of aspartame and its metabolic constituents was …
Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses
MJ De Groot, M Hoeksma, N Blau, DJ Reijngoud… - Molecular Genetics and …, 2010 - Elsevier
In untreated phenylketonuria (PKU), deficiency of phenylalanine hydroxylase (PAH) results
in elevated blood phenylalanine (Phe) concentrations and severe mental retardation …
in elevated blood phenylalanine (Phe) concentrations and severe mental retardation …
White matter pathology in phenylketonuria
PJ Anderson, V Leuzzi - Molecular genetics and metabolism, 2010 - Elsevier
Early-treated phenylketonuria (PKU) is associated with a range of neuropsychological
impairments. Proposed mechanisms for these impairments include dopamine depletion and …
impairments. Proposed mechanisms for these impairments include dopamine depletion and …
Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence
GM Enns, R Koch, V Brumm, E Blakely, R Suter… - Molecular genetics and …, 2010 - Elsevier
BACKGROUND: The National Institute of Health (NIH) published a Consensus Statement on
the screening and management of Phenylketonuria (PKU) in 2000. The panel involved in …
the screening and management of Phenylketonuria (PKU) in 2000. The panel involved in …
Response variability in attention-deficit/hyperactivity disorder: a neuronal and glial energetics hypothesis
VA Russell, RD Oades, R Tannock, PR Killeen… - Behavioral and Brain …, 2006 - Springer
1. Abstract Background Current concepts of Attention-Deficit/Hyperactivity Disorder (ADHD)
emphasize the role of higher-order cognitive functions and reinforcement processes …
emphasize the role of higher-order cognitive functions and reinforcement processes …