Results 41 to 50 of about 32,659 (306)

Genetic variation in phenylketonuria: analysis of the PAHvdb database [PDF]

Romanian Journal of Pediatrics, 2022
Introduction. Phenylketonuria (PKU) is the most frequent inborn metabolism error. The principal determinant factor for the metabolic phenotype in PKU is the residual enzymatic activity, which is determined by the variations in the phenylalanine ...
Alin Remus Iuhas, Claudia Jurca, Marius Bembea   +2 more
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, Penon-Portmann, Monica, Shieh, Joseph T   +2 more
core  

The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review

Journal of Inherited Metabolic Disease, 2019
Newborn screening for phenylketonuria (PKU) and early introduction of dietary therapy has been remarkably successful in preventing the severe neurological features of PKU, including mental retardation and epilepsy. However, concerns remain that long‐term
A. Burlina, R. Lachmann, R. Manara, C. Cazzorla, A. Celato, F. V. van Spronsen, A. Burlina   +6 more
semanticscholar   +1 more source

Nutritional evaluation of children with phenylketonuria [PDF]

, 1999
CONTEXT: Dietary phenylalanine (PA) restriction is the most effective form for reducing its excess in the blood and is the only efficient method for treating phenylketonuria.
Acosta PB, Acosta PB, Acosta PB, Anção M, Benjamim José Schmidt, Clark BJ, Dean AG, Dwyer JT, Fisberg RM, Flores M., Gropper SS, Lohman TG, Longhi R, Maria Eugênia da Silva-Fernandes, Mauro Fisberg, McBurnie MA, Regina Mara Fisberg, Scaglioni S, Sibinga MS, Siegel S., Souci SW, Torres MAA, Whitehead RG   +22 more
core   +7 more sources

The Effect of Empowerment Program for Nurses Regarding Management of Children with Phenylketonuria

Evidence-Based Nursing Research
Context: 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

Association of immune response with efficacy and safety outcomes in adults with phenylketonuria administered pegvaliase in phase 3 clinical trials [PDF]

, 2018
Background: This study assessed the immunogenicity of pegvaliase (recombinant Anabaena variabilis phenylalanine [Phe] ammonia lyase [PAL] conjugated with polyethylene glycol [PEG]) treatment in adults with phenylketonuria (PKU) and its impact on safety ...
Atkinson, John P, Boyer, Ryan, Gu, Zhonghu, Gupta, Soumi, Harding, Cary O, Knight, Vijaya, Larimore, Kevin, Lau, Kelly, Li, Mingjin, Olbertz, Joy, Rosen, Orli, Shepherd, Gillian, Shweighardt, Becky, Weng, Haoling H, Zoog, Stephen J   +14 more
core   +2 more sources

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

Methodological aspects of the use of dry components of chicken eggs for feeding children with phenylketonuria

Пищевые системы, 2021
Currently, one of the most important tasks facing science and production is the creation of functional product technologies for use in different diets of the population in order to preserve and improve health, as well as reduce the risks and consequences
S. T. Bykova, T. G. Kalinina, T. V. Bushueva, T. E. Borovik   +3 more
doaj   +1 more source

Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study [PDF]

, 2017
PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies.
Antonelli, Amanda, Bernardo, Silvia, Catalano, Carlo, DE VITO, Corrado, Di Meglio, L, Giancotti, Antonella, Manganaro, Lucia, Marchionni, Enrica, Pizzuti, Antonio, Saldari, Matteo, Silvestri, E, Vinci, Valeria   +11 more
core   +1 more source

Assessing Phenylalanine Blood Level in Children With Phenylketonuria in Southern Khorasan Province and Determining the Affecting Social and Demographic Factors

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, Bita Bijari, Niloofar Hamidi Laeen, Sayeh Shaban, Emad Asgari Jafarabadi   +4 more
doaj