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- Title
Characteristic proton magnetic resonance spectroscopy in glucose transporter type 1 deficiency syndrome.
- Authors
Akasaka, Manami; Kamei, Atsushi; Araya, Nami; Oyama, Kotaro; Sasaki, Makoto
- Abstract
The article focuses on glucose transporter type 1 deficiency syndrome (GLUT1 DS) is a congenital defect that impairs glucose transport across the blood–brain barrier. Topics include the GLUT1 DS patients have normal blood glucose, the clinical symptoms include refractory seizures, abnormal eye movements and developmental delay, and the most patients do not show specific abnormalities during conventional magnetic resonance imaging (MRI).
- Subjects
DRUG therapy for convulsions; VALPROIC acid; GLUCOSE metabolism; GLUCOSE transporter 1 deficiency syndrome; ATAXIA; DEOXY sugars; EYE movements; GESTATIONAL age; GENETIC mutation; PROTON magnetic resonance spectroscopy; RADIOPHARMACEUTICALS; SPASMS; POSITRON emission tomography; TWINS; DIAGNOSIS
- Publication
Pediatrics International, 2018, Vol 60, Issue 10, p978
- ISSN
1328-8067
- Publication type
Article
- DOI
10.1111/ped.13672