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
Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism [PDF]
, 2017 Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia
Andolina, Diego +8 more
core +2 more sources
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 +2 more
core
Metabolomics of dietary fatty acid restriction in patients with phenylketonuria [PDF]
, 2012 Patients with phenylketonuria (PKU) have to follow a lifelong phenylalanine restricted diet. This type of diet markedly reduces the intake of saturated and unsaturated fatty acids especially long chain polyunsaturated fatty acids (LC-PUFA).
Berthold Koletzko +10 more
core +3 more sources
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
Revista Paulista de Pediatria, 2020 Objective: To verify the occurrence of overweight in children and adolescents with phenylketonuria and to identify possible causal factors. Data sources: A systematic review was performed in the SciELO, PubMed and VHL databases using the descriptors ...
Berilany dos Santos Sena +4 more
doaj +2 more sources
Living with phenylketonuria in adulthood: the PKU ATTITUDE study [PDF]
, 2018 Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence.
Bensi, Giulia +11 more
core +2 more sources
The Effect of Empowerment Program for Nurses Regarding Management of Children with Phenylketonuria
Evidence-Based Nursing ResearchContext: 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
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
Recommendations on phenylketonuria in Turkey
The Turkish Journal of Pediatrics, 2022 Background. Phenylketonuria (PKU), is an autosomal recessive disease leading to the conversion defect of phenylalanine (Phe) into tyrosine. Severe neurocognitive and behavioral outcomes are observed in untreated cases.
Turgay Coşkun +4 more
doaj +1 more source