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Keywords: GLUT1DS
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Journal Articles
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Metabolic Disorders
Dis Model Mech (2019) 12 (9): dmm038828.
Published: 12 September 2019
... deficiency syndrome (GLUT1DS; OMIM #606777). Patients with GLUT1DS display varied clinical phenotypes, such as infantile seizures, ataxia, severe mental retardation with learning disabilities, delayed development, hypoglycorrhachia, and other varied symptoms. Glut1 Rgsc200 mutant mice mutagenized with N...
Includes: Supplementary data