Results 21 to 30 of about 11,515 (196)
The Turkish Journal of Pediatrics, 2016 Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs.
Yılmaz Yıldız +4 more
doaj +1 more source
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021 Background Phenylketonuria is the most common inborn error of amino acid metabolism, where oxidative stress and collateral metabolic abnormalities are likely to cause cardiac structural and functional modifications.
Radu Tanacli +14 more
doaj +1 more source
The Effect of Empowerment Program for Nurses Regarding Management of Children with Phenylketonuria
Evidence-Based Nursing ResearchContext: Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. If PKU did not diagnose early in life or the affected children with PKU do not be compliant with the ...
Khadiga M. Said, Safaa F. Draz
doaj +1 more source
Executive function in adolescents with PKU and their siblings: Associations with biochemistry
Molecular Genetics and Metabolism Reports, 2015 Previous research shows consistent and marked executive function impairment in children with early and continuously treated phenylketonuria. This between groups analysis (phenylketonuria group vs sibling controls) found no significant differences in ...
R. Sharman +3 more
doaj +1 more source
Phenylketonuria: Genes in Phenylketonuria, Diagnosis, and Treatments [PDF]
SSRN Electronic Journal, 2019 Introduction: Phenylketonuria (PKU) is a rare autosomal-recessive disorder inherited in accordance with the law of segregation. Detection tools for people with PKU can include Sanger Sequencing (SS) and Next Generation Sequencing (NGS). Diet therapy, Large Neutral Amino Acids (LNAA), and Specific Nutrient Combination (SNC) can help alleviate people ...
openaire +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato +7 more
wiley +1 more source
Epidemiologic view of phenylketonuria (PKU) in Latinamerica
Acta Pediátrica de México, 2014 Latin America is a region conformed by 20 countries characterized by a wide diversity among them, which can be demonstrated through several indicators such as rural population percentage, ethnicity, public health budget allocated and infant mortality ...
Gustavo JC Borrajo
doaj +1 more source
Revista Paulista de Pediatria, 2020 Objective: To verify the occurrence of overweight in children and adolescents with phenylketonuria and to identify possible causal factors. Data sources: A systematic review was performed in the SciELO, PubMed and VHL databases using the descriptors ...
Berilany dos Santos Sena +4 more
doaj +2 more sources
Advanced Science, EarlyView.A single‐cell atlas of pancreatic ductal adenocarcinoma development reveals progressive ductal‐fibroblast‐immune crosstalk. Tumor‐derived LAMB3 drives the formation of immunosuppressive LRRC15+ fibroblasts through the ITGB1/FAK/MAPK/FOSL2 signaling. Glycolytic reprogramming upregulates LAMB3 and correlates with LRRC15+ fibroblast enrichment.
Xuqing Shi +23 more
wiley +1 more source
Asian Journal of Medical Sciences, 2018 Background: Phenylketonuria, commonly known as PKU, is an inherited disorder in which there is an abnormally elevated blood level of the amino acid phenylalanine leading to several pathologies affecting multiple organs including the central nervous ...
Ahmed Al-Imam
doaj +1 more source