Results 41 to 50 of about 31,184 (250)
Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]
, 2006 Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C. +4 more
core +1 more source
Admissions and Cost of Hospitalisation of Phenylketonuria: Spanish Claims Database Analysis [PDF]
, 2020 Phenylketonuria is a well-known rare disease included in the neonatal screening of many countries. Therefore, there are few published data on the admissions and costs of phenylketonuria in Spain. (...) The objective of this study was to assess the number
Ascanio, Meritxell, Darbà, Josep
core +1 more source
Frontiers in Psychiatry, 2019 Phenylketonuria (PKU) is a recessive disorder of phenylalanine metabolism due to mutations in the gene for phenylalanine hydroxylase (PAH). Reduced PAH activity results in significant hyperphenylalaninemia, which leads to alterations in cerebral myelin ...
Killian Ashe +6 more
semanticscholar +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
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 +2 more
doaj +1 more source
Incidence of phenylketonuria and the effect of prevention national program on reducing its incidence in the population covered by Kerman University of Medical Sciences during 2007-2020 [PDF]
Majallah-i Zanān, Māmā̓ī va Nāzā̓ī-i Īrān, 2022 Introduction: Phenylketonuria (PKU) is the most common inherited metabolic disease in Iran that can be prevented by prenatal diagnostic tests (PND).
Salman Daneshi +4 more
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 +14 more
core +2 more sources
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 +6 more
semanticscholar +1 more source
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 +3 more
doaj +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