Current status of newborn screening worldwide: 2015

BL Therrell, CD Padilla, JG Loeber, I Kneisser… - Seminars in …, 2015 - Elsevier
Newborn screening describes various tests that can occur during the first few hours or days
of a newborn's life and have the potential for preventing severe health problems, including …

A contemporary review of the relationship between red meat consumption and cardiovascular risk

S Bronzato, A Durante - International journal of preventive …, 2017 - journals.lww.com
Cardiovascular diseases burden is increasing due to aging populations and represents one
of the major health issues worldwide. Dietary habits have been extensively studied in the …

Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies

ALS Pessoa, AM Martins, EM Ribeiro… - Orphanet Journal of …, 2022 - Springer
Background Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency
of the enzyme phenylalanine hydroxylase. If untreated, the complications of PKU lead to …

[HTML][HTML] Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and …

A Chiesa, N Spécola, M Poubel, M Vela-Amieva… - Molecular Genetics and …, 2024 - Elsevier
Objective To characterize adherence to Phenylketonuria (PKU) management practices
among PKU patients treated at reference sites around Argentina, Brazil, and Mexico …

[HTML][HTML] Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: results from a survey with 228 patients and their caregivers

AM Martins, ALS Pessoa, AA Quesada… - Molecular Genetics and …, 2020 - Elsevier
Abstract Background Accumulation of phenylalanine (Phe) due to deficiency in the enzyme
phenylalanine hydroxylase (PAH), responsible for the conversion of Phe into tyrosine leads …

[HTML][HTML] Incidence of Neonatal Hyperphenylalaninemia based on high-performance liquid chromatography confirmatory technique in Mazandaran Province, Northern …

A Abbaskhanian, D Zamanfar, P Afshar… - … journal of preventive …, 2017 - ncbi.nlm.nih.gov
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 …

Newborn screening for phenylketonuria: Latin American consensus guidelines

GJC Borrajo - Journal of Inborn Errors of Metabolism and Screening, 2019 - SciELO Brasil
Newborn screening (NBS) for phenylketonuria in Latin America gave its first step in an
organized way 3 decades ago when the first national NBS program was implemented in …

Edulcorantes no calóricos en la edad pediátrica: análisis de la evidencia científica

GH Wakida-Kuzunoki… - Revista Mexicana de …, 2018 - medigraphic.com
Los edulcorantes no calóricos son aditivos alimentarios cuya función tecnológica es
proporcionar sabor dulce a los alimentos, pero con un valor energético nulo o muy bajo …

[HTML][HTML] Update on dietary compliance, nutritional status, and neuropsychological functioning in the chilean phenylketonuria cohort

MJ Leal-Witt, MF Salazar, F Peñaloza… - Journal of Inborn …, 2021 - SciELO Brasil
Since 1992, Chile has had a Newborn Screening Program for Phenylketonuria (PKU), which
currently has an incidence of 1: 18,916 newborns. The objective of the current study was to …

Produção de conhecimento sobre as doenças rastreadas pela triagem neonatal no Brasil de 2008 a 2018

FL Baggio, N Ansbach, BB Kapusta… - Revista Eletrônica …, 2020 - acervomais.com.br
Objetivo: Avaliar a produção de conhecimento acerca da prevalência das doenças
detectadas pela triagem neonatal no Brasil, entre 2008 a 2018. Métodos: Revisão …