Results 11 to 20 of about 32,659 (306)
Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis [PDF]
Clinical and Experimental Pediatrics, 2020 Phenylketonuria is a disease caused by congenital defects in phenylalanine metabolism that leads to irreversible nerve cell damage. However, its detection in the early days of life can reduce its severity.
Hamid Reza Shoraka +4 more
doaj +2 more sources
The cardiovascular phenotype of adult patients with phenylketonuria [PDF]
Orphanet Journal of Rare Diseases, 2019 BACKGROUND: Patients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown.
Azabdaftari, Aline +5 more
core +2 more sources
Living with phenylketonuria in adulthood: the PKU ATTITUDE study [PDF]
Molecular Genetics and Metabolism Reports, 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 +3 more sources
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 +3 more sources
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 +10 more
doaj +2 more sources
Living with Phenylketonuria: Lessons from the PKU community
Molecular Genetics and Metabolism Reports, 2018 Introduction: We report the practical, social and psychological issues of living with phenylketonuria (PKU) from one of the largest surveys that has been completed by both adults with PKU and parents/caregivers of children.
Suzanne Ford +2 more
doaj +2 more sources
Phenylketonuria Diet Promotes Shifts in Firmicutes Populations
Frontiers in Cellular and Infection Microbiology, 2019 Low-phenylalanine diet, the mainstay of treatment for phenylketonuria (PKU), has been shown to increase glycemic index and glycemic load, affecting the availability of substrates for microbial fermentation.
Giulia Bassanini +9 more
doaj +2 more sources
Genetic etiology and clinical challenges of phenylketonuria
Human Genomics, 2022 This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn error of phenylalanine (Phe) metabolism caused by pathogenic variants in the ...
N. Elhawary +11 more
semanticscholar +1 more source
Nature Communications, 2021 In phenylketonuria (PKU) patients, a genetic defect in the enzyme phenylalanine hydroxylase (PAH) leads to elevated systemic phenylalanine (Phe), which can result in severe neurological impairment.
K. Adolfsen +15 more
semanticscholar +1 more source
Nature Communications, 2021 Engineered bacteria (synthetic biotics) represent a new class of therapeutics that leverage the tools of synthetic biology. Translational testing strategies are required to predict synthetic biotic function in the human body.
Tyler Nelson +9 more
semanticscholar +1 more source