Results 1 to 10 of about 7,438 (233)
Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism [PDF]
Journal of Applied Oral Science, 2009 The Neonatal Screening for Inborn Errors of Metabolism of the Association of Parents and Friends of Special Needs Individuals (APAE) - Bauru, Brazil, was implanted and accredited by the Brazilian Ministry of Health in 1998.
Mariana Germano Gejão +4 more
doaj +8 more sources
Brazilian Food Reference Guide for Phenylalanine Content: A Study Based on the Perception of PKU Patients and Health Providers [PDF]
Journal of Inborn Errors of Metabolism and Screening, 2022 The mainstay of management of phenylketonuria (PKU) is restriction of dietary phenylalanine (Phe) intake. The present study sought to assess the perception and understanding of health care providers and lay users (patients/family members/caregivers ...
Bruna Bento dos Santos +5 more
doaj +3 more sources
OVERWEIGHT AND ASSOCIATED FACTORS IN CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA: A SYSTEMATIC REVIEW [PDF]
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
Overview of neonatal screening for phenylketonuria in Brazil [PDF]
Medicina, 2016 Objectives: To present an overview of neonatal screening for phenylketonuria in Brazil. Methodology: An electronic search was made in LILACS, employing the terms “neonatal screening” and “Brazil” and “Phenylketonuria”.
Alessandra B. Trovó de Marqui
doaj +3 more sources
Nature Reviews Disease Primers, 2021 Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe intellectual disability, epilepsy and behavioural problems.
Francjan J, van Spronsen +5 more
openaire +5 more sources
Molecular Genetics & Genomic Medicine, 2022 Background Hyperphenylalaninemia (HPA) is the most common inborn error of amino acid metabolism worldwide. At least 2% of HPA cases are caused by a deficiency in tetrahydrobiopterin (BH4) metabolism.
Seyedeh Helia Sadat Fatemi +3 more
doaj +1 more source
METABOLIC CONTROL AND BODY COMPOSITION OF CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA
Revista Paulista de Pediatria, 2021 Objective: To characterize metabolic control and verify whether it has any relation with socioeconomic, demographic, and body composition variables in children and adolescents with phenylketonuria (PKU) diagnosed in the neonatal period.
Zeni Drubi Nogueira +4 more
doaj +2 more sources
Arquivos de Neuro-Psiquiatria, 2023 Background Phenylketonuria (PKU) is an inborn error of metabolism caused by deficient activity of phenylalanine hydroxylase. In Brazil, the National Neonatal Screening Program enables early treatment of patients with PKU, which prevents them ...
Ida Vanessa Doederlein Schwartz +5 more
doaj +1 more source
International Journal of Preventive Medicine, 2017 Background: Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this study was to assess epidemiological factors of PKU phenotypes in a neonatal screening program for Mazandaran, Iran.
Ali Abbaskhanian +6 more
doaj +1 more source
Quality of Life and the Associated Psychological Factors in Caregivers of Children with PKU [PDF]
Iranian Journal of Psychiatry, 2011 "nObjectives: The main objective of this study was to investigate the association of psychological factors and life stressors with quality of life in caregivers of children with PKU.
Nargess Alirezaei +2 more
doaj +2 more sources