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Keywords: GLUT1DS
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Journal Articles
In collection:
Metabolic Disorders
Tamio Furuse, Hiroshi Mizuma, Yuuki Hirose, Tomoko Kushida, Ikuko Yamada, Ikuo Miura, Hiroshi Masuya, Hiromasa Funato, Masashi Yanagisawa, Hirotaka Onoe, Shigeharu Wakana
Journal:
Disease Models & Mechanisms
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