Living with Phenylketonuria: Lessons from the PKU community [PDF]
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 +4 more sources
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
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
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
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
Crianças com fenilcetonúria: avaliação audiológica básica e supressão das otoemissões Children with phenylketonuria: basic audiological evaluation and suppression of otoacoustic emissions [PDF]
Revista da Sociedade Brasileira de Fonoaudiologia, 2012 OBJETIVO: Avaliar a via auditiva de crianças com fenilcetonúria tratadas precocemente, por meio de audiometria, imitanciometria e supressão das emissões otoacústicas transientes. MÉTODOS:Estudo prospectivo transversal comparativo com amostra composta por
Patrícia Souza Ribeiro +4 more
doaj +3 more sources
Neonatal Phenylketonuria Screening Indices in Kerman district during 2013-2017 [PDF]
پژوهشهای سلامتمحور, 2019 Neonatal Phenylketonuria Screening Indices in Kerman District during 2013-2017 Bavafa Babak1, Ahmadipour Habibeh2*, Bigham Eshrat3 1. Pediatrician, Focal Point of Phenylketonuria, Family Physician Clinic, Afzalipour School of Medicine, Kerman ...
Babak Bavafa +2 more
doaj +2 more sources
Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria [PDF]
, 2017 Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as “responders.” Although prior research has identified biochemical and genotypic ...
Christ, Shawn E +5 more
core +16 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
Children, 2021 In a small preliminary study, phenylketonuria and poor metabolic control were suggested as risk factors for Helicobacter pylori infection in children as detected with an antigen stool test.
Marek Walkowiak +9 more
doaj +1 more source