Executive function in early-treated phenylketonuria: profile and underlying mechanisms
SE Christ, SCJ Huijbregts, LMJ de Sonneville… - Molecular Genetics and …, 2010 - Elsevier
Despite early and continuous dietary intervention, individuals with early-treated
phenylketonuria (PKU) experience significant neurocognitive sequelae. An area of cognitive …
phenylketonuria (PKU) experience significant neurocognitive sequelae. An area of cognitive …
The role of the executive functions in school achievement at the end of Grade 1
The aim of this study was to determine the role of executive functions (EFs) in early school
achievement when a variety of potential confounding factors were controlled. Measures of …
achievement when a variety of potential confounding factors were controlled. Measures of …
Autism spectrum disorders and inborn errors of metabolism: an update
M Ghaziuddin, M Al-Owain - Pediatric Neurology, 2013 - Elsevier
Background Autism spectrum disorder is characterized by social communicative deficits with
restricted interests occurring in about 1% of the population. Although its exact cause is not …
restricted interests occurring in about 1% of the population. Although its exact cause is not …
Structure of executive functions in typically developing kindergarteners
Whereas studies of the past 10 years have shown the executive functions (EFs) in adults to
be differentiated into at least three principal components (working memory, inhibition, and …
be differentiated into at least three principal components (working memory, inhibition, and …
Neurocognitive evidence for revision of treatment targets and guidelines for phenylketonuria
R Jahja, SCJ Huijbregts, LMJ De Sonneville… - The Journal of …, 2014 - Elsevier
Objectives To compare the neurocognitive outcomes of patients with phenylketonuria (PKU)
to determine whether decreasing phenylalanine (Phe) levels to< 240 is preferable to the use …
to determine whether decreasing phenylalanine (Phe) levels to< 240 is preferable to the use …
ADHD, learning, and academic performance in phenylketonuria
KM Antshel - Molecular Genetics and Metabolism, 2010 - Elsevier
Despite having average intellectual abilities, academic difficulties are relatively common in
children and adolescents with PKU. These academic difficulties may be a function of …
children and adolescents with PKU. These academic difficulties may be a function of …
Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis
CJ Fonnesbeck, ML McPheeters… - Journal of inherited …, 2013 - Springer
Though the control of blood phenylalanine (Phe) levels is essential for minimizing
impairment in individuals with phenylketonuria (PKU), the empirical basis for the selection of …
impairment in individuals with phenylketonuria (PKU), the empirical basis for the selection of …
Large neutral amino acids (LNAAs) supplementation improves neuropsychological performances in adult patients with phenylketonuria
Phenylketonuria is an inborn error of phenylalanine (Phe) metabolism diagnosed by
newborn screening and treated early with diet. Although diet prevents intellectual disability …
newborn screening and treated early with diet. Although diet prevents intellectual disability …
Dietary habits and metabolic control in adolescents and young adults with phenylketonuria: self-imposed protein restriction may be harmful
AM Das, K Goedecke, U Meyer, N Kanzelmeyer… - JIMD Reports-Case and …, 2014 - Springer
Background: In untreated patients, phenylketonuria (PKU) results in severe encephalopathy
with mental retardation. A protein-restricted diet is recommended which can be relaxed in …
with mental retardation. A protein-restricted diet is recommended which can be relaxed in …
[HTML][HTML] Quality of life and the associated psychological factors in caregivers of children with PKU
J Mahmoudi-Gharaei, S Mostafavi… - Iranian journal of …, 2011 - ncbi.nlm.nih.gov
Objectives The main objective of this study was to investigate the association of
psychological factors and life stressors with quality of life in caregivers of children with PKU …
psychological factors and life stressors with quality of life in caregivers of children with PKU …