Optimization of established and assessment of novel newborn screening strategies in the Netherlands [PDF]
, 2021 Newborn screening (NBS) is an important method for prevention of long-term health consequences or premature death in newborns with inherited disorders.
Stroek, K.
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Cadernos de Saúde Pública, 2011 Este trabalho avalia a eficiência da adição do exame da galactosemia junto ao Teste do Pezinho. Baseado na incidência média estimada de galactosemia, de 1:19.984 recém-nascidos, no Estado de São Paulo, Brasil, este estudo desenvolve um modelo de análise ...
José Simon Camelo Junior +7 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
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Galactokinase deficiency:lessons from the GalNet registry [PDF]
, 2020 PURPOSE Galactokinase (GALK1) deficiency is a rare hereditary galactose metabolism disorder. Beyond cataract, the phenotypic spectrum is questionable.
Berry, Gerard T. +23 more
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Galactosemias:Lessons from the GalNet registry, state of the art fertility insights, and exploring new treatments [PDF]
Galactosemias is a group of inherited disorders characterised by an aberrant cellular galactose metabolism. Depending on the affected step in the galactose metabolism pathway, patients show a broad phenotypic spectrum and experience a high disease burden.
Derks, Britt
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Plasma coenzyme Q10 status is impaired in selected genetic conditions. [PDF]
, 2019 Identifying diseases displaying chronic low plasma Coenzyme Q10 (CoQ) values may be important to prevent possible cardiovascular dysfunction. The aim of this study was to retrospectively evaluate plasma CoQ concentrations in a large cohort of pediatric ...
Artuch, R +17 more
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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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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
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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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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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