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Primary ovarian insufficiency in Classic Galactosemia: a systematic review.
J Endocrinol Invest
January 2025
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, 40138, Italy.
Purpose: Galactosemia is a rare inborn error of galactose metabolism. There are several forms, the most severe being classic galactosemia (CG), which begins in the first few days of life. Nowadays, it is possible to screen CG at birth, averting acute decompensation or death through diet.
View Article and Find Full Text PDFGalactosemia among Positive-screened Patients who Underwent Lactose Challenge: A Review of Records of the Newborn Screening Program.
Acta Med Philipp
October 2024
Section of Clinical and Metabolic Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila.
Background: Newborns screened positive for Galactosemia through Expanded Newborn Screening (ENBS) with borderline levels undergo lactose challenge that requires interruption of breastfeeding temporarily then shifting to soy-based formula.
Objective: To determine the percentage of Classical Galactosemia (CGal), Non-classical Galactosemia (NCGal), probable mild variant form, and negative Galactosemia among newborns screened positive for Galactosemia who underwent lactose challenge.
Methods: This is a retrospective study.
Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency.
BMC Pediatr
September 2024
Diagnosis and Treatment Unit of Congenital Metabolic Diseases (UDyTEMC), Clinical University Hospital of Santiago de Compostela. National Reference Center for Metabolic Diseases (C.S.U.R.), Santiago de Compostela, Spain.
Article Synopsis
- The study presents a rare case of two 9-year-old twins with galactose mutarotase (GALM) deficiency who have remained asymptomatic, even after gradually reintroducing galactose into their diet after a period of strict dietary restriction.
- Initial detection was through newborn screening, leading to biochemical normalization after dietary adjustments; the genetic analysis revealed a complete deletion of a specific exon in the GALM gene.
- The findings suggest that dietary liberalization may not negatively affect health in GALM deficiency, prompting further exploration into dietary management for this condition.
Outcome of Expanded Newborn Screening Among 194 000 Neonates at Northeast México.
Glob Pediatr Health
September 2024
Universidad Autónoma de Nuevo León, Departamento de Genética, Facultad de Medicina y Hospital Universitario Dr. José Eleuterio González, Monterrey, Nuevo León, México.
. To describe the results of a 16-year experience of a state-coverage expanded newborn screening program (NBSP) in Northeast México. .
View Article and Find Full Text PDFCopper Single-Atom Nanozyme Mimicking Galactose Oxidase with Superior Catalytic Activity and Selectivity.
Small
December 2024
Department of Chemistry, National University of Singapore, 3 Science Drive 3, Singapore, 117543, Singapore.
Due to the low stability and high cost of some natural enzymes, nanozymes have been developed as enzyme-imitating nanomaterials. Single-atom nanozymes are a class of nanozymes with metal centers that mimic the structure of metal-based natural enzymes. Herein, Cu-N-C single-atom nanozyme (SAN) is synthesized with excellent peroxidase- and enhanced oxidase-like activities to mimic the action of natural galactose oxidase.
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