Associated Papers
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.
Marín-Quílez A et al.
Platelets, 2023
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation.
Marín-Quílez A et al.
International Journal of Molecular Sciences, 2023
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas S et al.
Journal of Inherited Metabolic Disease, 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
Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.
Gilad O et al.
Haematologica, 2022
Expansion of the clinical phenotype of GALE deficiency.
Markovitz R et al.
American Journal of Medical Genetics. Part A, 2021
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
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
Multifaceted role of glycosylation in transfusion medicine, platelets, and red blood cells.
Lee-Sundlov MM et al.
Journal of Thrombosis and Haemostasis : Jth, 2020
Recent advances in inherited platelet disorders.
Pluthero FG et al.
Current Opinion in Hematology, 2019
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
Seo A et al.
Human Molecular Genetics, 2019
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