Associated Papers
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.
Marín-Quílez A et al.
Platelets, 2023
Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation.
Marín-Quílez A et al.
International Journal of Molecular Sciences, 2023
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.
Marín-Quílez A et al.
Blood, 2023
Galactose epimerase deficiency: lessons from the GalNet registry.
Derks B et al.
Orphanet Journal of Rare Diseases, 2022
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Perea-Romero I et al.
Human Genetics, 2021
34448047 (PubMed )
Supplement: 439_2021_2343_MOESM2_ESM.xlsx › Suppl_Table_S7
Expansion of the clinical phenotype of GALE deficiency.
Markovitz R et al.
American Journal of Medical Genetics. Part A, 2021
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
Febres-Aldana CA et al.
Molecular Syndromology, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia.
McCorvie TJ et al.
Gene, 2013
Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia.
Chhay JS et al.
Journal of Inherited Metabolic Disease, 2008
The structural and molecular biology of type III galactosemia.
Timson DJ
Iubmb Life, 2006
Epimerase-deficiency galactosemia is not a binary condition.
Openo KK et al.
American Journal of Human Genetics, 2006
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