Results 21 to 30 of about 26,955 (257)

Bone Status in Patients with Phenylketonuria: A Systematic Review

open access: yesNutrients, 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
semanticscholar   +1 more source

Executive function in adolescents with PKU and their siblings: Associations with biochemistry

open access: yesMolecular 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

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]

open access: yesMajallah-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

Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments

open access: yesFrontiers 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

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

open access: yesBMC 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
doaj   +1 more source

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

open access: yesRomanian 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

Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder

open access: yesThe 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
doaj   +1 more source

Genotype-phenotype correlation in phenylketonuria [PDF]

open access: yesRomanian 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

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

open access: yesПищевые 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

The digital epidemiology of phenylketonuria, aka folling’s disease: retrospective analysis and geographic mapping via google trends

open access: yesAsian 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

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