Results 31 to 40 of about 16,232 (245)
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
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
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
Highly Biomimetic Ectodermal Epithelial Organoids for Epithelial Barrier Stimulation Assays
Advanced Science, EarlyView.ABSTRACT Evaluating the potential toxicity of pharmaceuticals and biomaterials to ectodermal epithelia, such as the oral mucosa and skin, is indispensable in pre‐clinical assessments. However, this remains a challenge primarily owing to the lack of physiologically relevant and accurate screening models.
Yiming Chen +13 more
wiley +1 more source
Challenges in the management of Phenylketonuria in Malta [PDF]
, 2016 Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine reductase (DHPR) deficiency appears to be more common than phenylalanine hydroxylase deficiency (classical PKU), and is ...
Attard, Stephen, Attard Montalto, Simon
core
Advanced Science, EarlyView.ANKS1B in the nucleus accumbens plays a critical role in the transition from controlled to escalated cocaine intake. Mechanistically, ANKS1B interacts with CBP to epigenetically suppress FoxO3 through H3K27 acetylation. The ANKS1B‐CBP‐FoxO3 signaling cascade presents a novel theraputic target for the treatment of cocaine addiction.
Liping Yang +15 more
wiley +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
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
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
Segmented Therapeutic Delivery via Acoustic Microbubble Relay
Advanced Intelligent Systems, EarlyView.An acoustically driven, modular segmented delivery system is presented to overcome mechanical limitations of conventional microcatheters. Oscillating microbubbles generate directional streaming that enables continuous, targeted transport across open, angled segments.
Lei Wang +6 more
wiley +1 more source