Results 11 to 20 of about 368 (102)
Resultados del programa de pesquisaje neonatal de errores innatos del metabolismo en Las Tunas [PDF]
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016 Fundamento: la pesquisa de diversas enfermedades neonatales tiene importancia para la salud pública. La detección precoz y el tratamiento de las enfermedades metabólicas disminuyen los indicadores de morbilidad y mortalidad, permitiendo mejorar la ...
Madelin Rodríguez Cruz +2 more
doaj +3 more sources
Assessment of galactose-1-phosphate uridyltransferase activity in cells and tissues. [PDF]
J Biol Methods, 2021 Galactosemias are a family of autosomal recessive genetic disorders resulting from impaired enzymes of the Leloir pathway of galactose metabolism including galactokinase, galactose uridyltransferase, and UDP-galactose 4-epimerase that are critical for ...
Brophy ML, Murphy JE, Bell RD.
europepmc +2 more sources
, 2021 Galactose is a naturally occurring monosaccharide used to build complex glycans that has not been targeted for labeling as a metabolic reporter. Here, we characterize the cellular modification of proteins by using Ac46AzGal in a dose- and time-dependent ...
Jing Ma (24574) +11 more
core +1 more source
, 2020 We report an inborn error of metabolism caused by TKFC deficiency in two unrelated families. Rapid trio genome sequencing in family 1 and exome sequencing in family 2 excluded known genetic etiologies, and further variant analysis identified rare ...
Taha, F. +14 more
core +2 more sources
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
The Canadian Journal of Chemical Engineering, EarlyView.Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía +3 more
wiley +1 more source
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease [PDF]
, 2020 We report an inborn error of metabolism caused by TKFC deficiency in two unrelated families. Rapid trio genome sequencing in family 1 and exome sequencing in family 2 excluded known genetic etiologies, and further variant analysis identified rare ...
Wortmann, SB +14 more
core
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
Jornal de Assistência Farmacêutica e FarmacoeconomiaDescrição do relato: O Programa Nacional de Triagem Neonatal identifica precocemente doenças metabólicas, genéticas, enzimáticas e endocrinológicas, permitindo tratamento oportuno. A SES/MG gerencia os fluxos dessa triagem no SUS.
Luciana Cássia Oliveira Barbosa +2 more
doaj +1 more source