Results 21 to 30 of about 7,483 (223)
Quality of life in adults with phenylketonuria:a systematic review / Qualidade de vida em adultos com fenilcetonúria:uma revisão sistemática [PDF]
, 2022 Objective: To evaluate the quality of life of adults with phenylketonuria (PKU) using different methodologies. Methods: review developed according to PRISMA report items and the guidelines of the Cochrane Handbook for Systematic Reviews.
Haack, Adriana, Poubel, Monique
core
Protective Effect of Recombinant Adeno-Associated Virus 2/8-Mediated Gene Therapy from the Maternal Hyperphenylalaninemia in Offsprings of a Mouse Model of Phenylketonuria [PDF]
, 2008 Phenylketonuria (PKU) is an autosomal recessively inherited metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH). The accumulation of phenylalanine leads to severe mental and psychomotor retardation, and the fetus of an ...
Arruda +35 more
core +2 more sources
Cadernos de Saúde Pública, 2011 As diretrizes enfatizam o momento adequado para a coleta do teste de triagem neonatal entre o 3º e o 7º dias de vida, em 100% dos recém-natos. O tratamento do hipotireoidismo congênito e da fenilcetonúria iniciado até 2 semanas de vida é capaz de evitar ...
Judy Botler +2 more
doaj +1 more source
Revista Brasileira de Saúde Materno Infantil, 2005 OBJETIVOS: descrever as características clínicas dos pacientes com hiperfenilalaninemia acompanhados no Serviço de Referência em Triagem Neonatal (SRTN) do estado da Bahia. MÉTODOS: estudo descritivo transversal, tendo como amostra todos os pacientes com
Tatiana Amorim +6 more
doaj +1 more source
Phenylketonuria: Genes in Phenylketonuria, Diagnosis, and Treatments [PDF]
SSRN Electronic Journal, 2019 Introduction: Phenylketonuria (PKU) is a rare autosomal-recessive disorder inherited in accordance with the law of segregation. Detection tools for people with PKU can include Sanger Sequencing (SS) and Next Generation Sequencing (NGS). Diet therapy, Large Neutral Amino Acids (LNAA), and Specific Nutrient Combination (SNC) can help alleviate people ...
openaire +3 more sources
Bibliometric Studies and Worldwide Research Trends on Global Health [PDF]
, 2021 Global health, conceived as a discipline, aims to train, research and respond to problems of a transboundary nature, in order to improve health and health equity at the global level.
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Diet Therapy and Nutritional Management of Phenylketonuria [PDF]
, 2022 Phenylketonuria (PKU) is an established inherited amino acid disorder with a very traditional dietary therapy, but there is still more to learn and verify about its nutritional composition, application and overall effectiveness.
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Cost analysis of universal neonatal screening for inborn errors of metabolism with tandem mass spectrometry in Colombia [PDF]
, 2014 Antecedentes: La espectrometría de masas en tándem permite procesar muchas muestras de sangre seca, enviadas por correo ordinario, para detectar anomalías congénitas. En varios países, estas pruebas se hacen de manera rutinaria.
Rosselli, Diego +2 more
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Revista CEFAC, 2010 TEMA: a fenilcetonúria é uma doença genética que provoca alterações bioquímicas conduzindo a uma deficiência na síntese de proteínas e de neurotransmissores, e prejudicando o processo de mielinização.
Patrícia Cotta Mancini +4 more
doaj +1 more source
Cellular Oxidative Stress [PDF]
, 2022 This book collects 17 original research papers and 9 reviews that are part of the Special Issue “Cellular Oxidative Stress”, published in the journal Antioxidants.
core +1 more source