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 +4 more sources
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 +6 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
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
Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program Fenilcetonúria, hipotireoidismo congênito e hemoglobinopatias: questões de saúde pública para um programa de triagem neonatal brasileiro [PDF]
Cadernos de Saúde Pública, 2012 In this study, the frequency of detected congenital hypothyroidism, phenylketonuria and haemoglobinopathies in the State of Rio de Janeiro's (Brazil) Newborn Screening Program (NBSP) was analyzed between the years of 2005 and 2007. There were two Newborn
Judy Botler +2 more
doaj +2 more sources
Caracterización fenotípica y molecular de una familia colombiana con fenilcetonuria [PDF]
Biomédica: revista del Instituto Nacional de Salud, 2016 Introducción. La fenilcetonuria es un trastorno metabólico caracterizado por un compromiso neurológico grave y por alteraciones del comportamiento. Su diagnóstico temprano permite establecer un tratamiento efectivo que evita las secuelas y modifica el ...
Nancy Gélvez +6 more
doaj +5 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
Genetic etiology and clinical challenges of phenylketonuria [PDF]
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 ...
Nasser A. Elhawary +11 more
openalex +2 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
In vivo prime editing of a metabolic liver disease in mice
Science Translational Medicine, 2022 Prime editing is a highly versatile CRISPR-based genome editing technology that works without DNA double-strand break formation. Despite rapid technological advances, in vivo application for the treatment of genetic diseases remains challenging. Here, we
Désirée Böck +13 more
semanticscholar +1 more source