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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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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MouseCyc: a curated biochemical pathways database for the laboratory mouse [PDF]
, 2009 MouseCyc is a database of curated metabolic pathways for the laboratory ...
Bult, Carol J +4 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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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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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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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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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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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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Acta Paediatrica, 1954 SummaryComparative galactose tolerance tests have been carried out in one patient suffering from galactosemia and in three patients suffering from hepatic lesions of varying etiology. The findings indicate that galactosemia is an independent primary disease, in causal relation to isolated enzyme deficiency in the liver.
openaire +3 more sources