Results 21 to 30 of about 26,955 (257)
Bone Status in Patients with Phenylketonuria: A Systematic Review
Nutrients, 2020 Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Although dietary and, in some cases, pharmacological treatment has been successful in preventing intellectual disability in PKU patients who are treated early, suboptimal ...
M. D. de Castro +4 more
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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
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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
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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
BMC Pediatrics, 2005 Background Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus.
Weigel Corina +6 more
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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
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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
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Genotype-phenotype correlation in phenylketonuria [PDF]
Romanian Journal of Pediatrics, 2021 Introduction. Phenylketonuria is an inborn metabolism error with a high phenotypical variability, due in part to the large number of implicated genetical variants (over 1200 reported) but also due to other factors.
Alin Remus Iuhas +2 more
doaj +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
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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
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