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Metabolic control and body composition of children and adolescents with phenylketonuria

Nogueira, Zeni Drubi; Boa-Sorte, Ney; Leite, Maria Efigênia de Queiroz; Toralles, Maria Betânia Pereira; Amorim, Tatiana.
Rev. Paul. Pediatr. (Ed. Port., Online); 39 (), 2021
ABSTRACT 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. Methods: This cohort study collected retrospective data...
Antropometría/métodos, Composición Corporal/fisiología, Estudios de Casos y Controles, Estudios de Cohortes, Demografía, Errores Innatos del Metabolismo/sangre, Errores Innatos del Metabolismo/diagnóstico, Errores Innatos del Metabolismo/epidemiología, Estado Nutricional, Sobrepeso/epidemiología, Fenilalanina/sangre, Fenilcetonurias/diagnóstico, Fenilcetonurias/epidemiología, Fenilcetonurias/metabolismo, Estudios Retrospectivos, Factores Socioeconómicos
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Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia

Céspedes, Nora; Valencia, Angela; Echeverry, Carlos Alberto; Arce-Plata, Maria Isabel; Colón, Cristóbal; Castiñeiras, Daisy E; Hurtado, Paula Margarita; Cocho, Jose Angel; Herrera, Sócrates; Arévalo-Herrera, Myriam.
Colomb. med; 48 (3), 2017
Abstract Introduction: Inborn errors of metabolism (IEM) represent an important public health problem due to current diagnosis and treatment limitations, poor life quality of affected patients, and consequent untimely child death. In contrast to classical methods, tandem mass spectrometry (MS/MS) has al...
Aminoácidos/Sangre, Carnitina/análogos & derivados, Heptanoatos/Sangre, Errores Innatos del Metabolismo/diagnóstico, Espectrometría de Masas en Tándem/Métodos, Biomarcadores/Sangre, Carnitina/Sangre, Colombia, Estudios Transversales, Reacciones Falso Positivas, Errores Innatos del Metabolismo/Sangre, Valores de Referencia, Sensibilidad y Especificidad
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