Aportaciones de Louis I. Woolf al Tratamiento y Diagnóstico Precoz de la Fenilcetonuria y otros Errores Congénitos del Metabolismo. Los comienzos de la Tría Neonatal en España, con referencia al Programa de Galicia. CENTENARIO DE LOUIS ISAAC WOOLF [PDF]
, 2018 3ª ediciónAportaciones de Louis I. Woolf al Tratamiento y Diagnóstico Precoz de la Fenilcetonuria y otros Errores Congénitos del Metabolismo.
Alonso Fernández, José Ramón +1 more
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Carbohydrate Kinases: A Conserved Mechanism Across Differing Folds [PDF]
, 2019 This is the final version. Available from MDPI via the DOI in this recordCarbohydrate kinases activate a wide variety of monosaccharides by adding a phosphate group, usually from ATP.
Harmer, NJ, Roy, S, Vivoli Vega, M
core +1 more source
Triagem neonatal em Santa Catarina [PDF]
, 2023 Nesta webpalestra será abordada a triagem neonatal biológica, conhecida como teste do pezinho. Trata-se do rastreamento de doenças que ainda não apresentaram sintomas, com a possibilidade de tratamento prevenindo desfechos desfavoráveis, como óbito e ...
UFSC, Telessaúde
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The Parmesan Cheese Model System: Alleviation of Browning Defect in Parmesan Cheese [PDF]
, 2020 In cold temperature storage, Parmesan cheese can develop an undesirable browning defect. Certain pyrazine compounds converted from methylglyoxal have been identified and associated with the brown pigmentations in Parmesan cheese samples.
Aubrey, Megan Huegli
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Teste do Pezinho: mecanismos genéticos e aplicações [PDF]
, 2023 Esse presente estudo trata-se de uma revisão bibliográfica sendo de suma importância para agregar informações aos mecanismos genéticos do Programa Nacional do Teste do Pezinho (PNTP), a criação desse programa iniciou-se no Brasil em 1976, em São Paulo,
Ferreira, Fernando Rodrigues
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Jornal de Assistência Farmacêutica e FarmacoeconomiaIntrodução A avaliação econômica da utilização da estratégia de triagem neonatal universal para galactosemia no SUS (Sistema Único de Saúde), por meio da ampliação do escopo de patologias do Programa Nacional de Triagem Neonatal (PNTN), já aprovado ...
Ney Boa Sorte +4 more
doaj +1 more source
UDP-Galactose 4′-Epimerase Activities toward UDP-Gal and UDP-GalNAc Play Different Roles in the Development of Drosophila melanogaster [PDF]
, 2012 In both humans and Drosophila melanogaster, UDP-galactose 4′-epimerase (GALE) catalyzes two distinct reactions, interconverting UDP-galactose (UDP-gal) and UDP-glucose (UDP-glc) in the final step of the Leloir pathway of galactose metabolism, and also ...
AH Brand +27 more
core +4 more sources
Traveller mothers: Obstetric and neonatal outcomes in an Irish maternity unit
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Objective Travellers' ethnicity was only formally acknowledged by the Irish State in 2017. They experience persistent racism and discrimination, resulting in poorer outcomes in terms of health, education, employment, and accommodation. Previous studies have reported higher rates of infant mortality and stillbirths among Traveller mothers. This
Nessa Hughes +7 more
wiley +1 more source
Clinical cases of hereditary galactosemia in newborns [PDF]
, 2023 The purpose of the study is to identify early signs of galactosemia, to form a pathogenetic justified timely treatment of galactosemia, to conduct a genetic analysis.Цель исследования - выделить ранние клинические признаки галактоземии, сформировать ...
Krasnoyarova, M. V. +7 more
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The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, EarlyView.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source