Associated Papers
Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.
Klepper J
Journal of Inherited Metabolic Disease, 2025
Pseudohyperkalemia due to cryohydrocytosis in GLUT1 deficiency syndrome. A case report and literature review.
Furia A et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2023
Reticulocyte Maturation and Variant Red Blood Cells.
Stevens-Hernandez CJ et al.
Frontiers in Physiology, 2022
Idiopathic renal hypouricemia: A case report and literature review.
Wang C et al.
Molecular Medicine Reports, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
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Hereditary stomatocytosis: An underdiagnosed condition.
Andolfo I et al.
American Journal of Hematology, 2018
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.
Flatt JF et al.
Frontiers in Physiology, 2018
Anemia in Glucose Transporter Type 1 Deficiency Syndrome: Often Expected, Rarely Encountered, and with a Fascinating Explanation.
Willemsen MA
Neuropediatrics, 2017
Stomatin modulates the activity of the Anion Exchanger 1 (AE1, SLC4A1).
Genetet S et al.
Scientific Reports, 2017
Advances in understanding the pathogenesis of the red cell volume disorders.
Badens C et al.
British Journal of Haematology, 2016
GLUT1 deficiency syndrome 2013: current state of the art.
De Giorgis V et al.
Seizure, 2013
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
Pearson TS et al.
Current Neurology and Neuroscience Reports, 2013
An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.
Bawazir WM et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.
Flatt JF et al.
Blood, 2011
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