Results 51 to 60 of about 31,184 (250)
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 +3 more sources
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
Journal of Pediatrics Review, 2022 Background: Phenylketonuria is a metabolic disorder resulting from a defect in phenylalanine metabolism with a global prevalence of 1 in 10000. Delayed initiation of dietary modification leads to brain injury and cognitive and behavioral problems.
Tayebeh Chahkandi +4 more
doaj
Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]
, 2019 Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver +2 more
core +2 more sources
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
Optimizing genetics online resources for diverse readers. [PDF]
, 2020 PurposeClear and accurate genetic information should be available to health-care consumers at an individualized level of comprehension. The objective of this study is to evaluate the complexity of common online resources and to simplify text content ...
Chang, Jiyoo +2 more
core
Informed choice and public health screening for children: the case of blood spot screening [PDF]
, 2005 Objective: To examine parents' and health professionals' views on informed choice in newborn blood spot screening, and assess information and communication needs. Design and participants: A qualitative study involving semi-structured telephone interviews
Hargreaves, Katrina +2 more
core +2 more sources
Genetics of Phenylketonuria: Then and Now
Human Mutation, 2016 More than 950 phenylalanine hydroxylase (PAH) gene variants have been identified in people with phenylketonuria (PKU). These vary in their consequences for the residual level of PAH activity, from having little or no effect to abolishing PAH activity ...
N. Blau
semanticscholar +1 more source
Advanced Science, EarlyView.This study introduces cuproptosis nanoplatform, a novel nanoplatform using Cu2−XS hollow nanospheres, elesclomol, and lauric acid (LA) for self‐amplified cuproptosis. NIR‐II laser activation melts LA, releasing copper ions and elesclomol to enhance copper delivery within tumor cells, reduce glutathione's inhibitory effect, and trigger immunogenic cell ...
Runzi Cheng +10 more
wiley +1 more source
Frontiers in Neurology, 2019 Phenylketonuria is a hereditary metabolic disorder due to the deficiency of tetrahydrobiopterin or phenylalanine hydroxylase. Delayed diagnoses of it manifest a progressive irreversible neurological impairment in the early years of the disease.
Shuna Chen +4 more
doaj +1 more source