Galactose epimerase deficiency: lessons from the GalNet registry [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Galactose epimerase (GALE) deficiency is a rare hereditary disorder of galactose metabolism with only a few cases described in the literature.
Britt Derks +18 more
doaj +6 more sources
The natural history of classic galactosemia: lessons from the GalNet registry [PDF]
Orphanet Journal of Rare Diseases, 2019 Background Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT).
M. E. Rubio-Gozalbo +42 more
doaj +13 more sources
Galactosemia: Towards Pharmacological Chaperones. [PDF]
J Pers Med, 2021 Galactosemia is a rare inherited metabolic disease resulting from mutations in the four genes which encode enzymes involved in the metabolism of galactose. The current therapy, the removal of galactose from the diet, is inadequate.
Banford S +3 more
europepmc +4 more sources
The Metabolic Chemical Reporter Ac46AzGal Could Incorporate Intracellular Protein Modification in the Form of UDP-6AzGlc Mediated by OGT and Enzymes in the Leloir Pathway [PDF]
Frontiers in Chemistry, 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 ...
Jiajia Wang +12 more
doaj +2 more sources
Galactose oxidation using 13C in healthy and galactosemic children [PDF]
Brazilian Journal of Medical and Biological Research, 2015 Galactosemia is an inborn error of galactose metabolism that occurs mainly as the outcome of galactose-1-phosphate uridyltransferase (GALT) deficiency. The ability to assess galactose oxidation following administration of a galactose-labeled isotope (1 ...
D.R. Resende-Campanholi +5 more
doaj +5 more sources
Galactokinase deficiency: lessons from the GalNet registry. [PDF]
Genet Med, 2021 PURPOSE Galactokinase (GALK1) deficiency is a rare hereditary galactose metabolism disorder. Beyond cataract, the phenotypic spectrum is questionable.
Rubio-Gozalbo ME +23 more
europepmc +4 more sources
, 2023 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
openaire +4 more sources
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 +2 more sources
Classical galactosemia: A cloud with a silver lining [PDF]
, 2017 For classical galactosemia, (CG), an autosomal recessive inborn error of galactose metabolism, a galactose-restricted diet is the only available treatment.
Lindsey Welling
core +5 more sources
Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience. [PDF]
Clin Case RepAlaee M +4 more
europepmc +3 more sources