Results 21 to 30 of about 26,955 (257)
Bone Status in Patients with Phenylketonuria: A Systematic Review
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
semanticscholar +1 more source
Executive function in adolescents with PKU and their siblings: Associations with biochemistry
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
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]
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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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
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]
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
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]
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
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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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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