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Symptomatic West Syndrome Secondary to Glucose Transporter-1(GLUT1) Deficiency with Complete Response to 4:1 Ketogenic Diet

✍ Scribed by Vykuntaraju, K. N.; Bhat, Srikanth; Sanjay, K. S.; Govindaraju, M.


Book ID
120432542
Publisher
Springer-Verlag
Year
2013
Tongue
English
Weight
212 KB
Volume
81
Category
Article
ISSN
0019-5456

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Atypical GLUT1 deficiency with prominent
✍ Jennifer R.L. Friedman; Elizabeth A. Thiele; Dong Wang; Kara B. Levine; Erin K. πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 92 KB

## Abstract Glucose transport protein deficiency due to mutation in the __GLUT1__ gene is characterized by infantile onset and chronic seizure disorder, microcephaly, global developmental delays, and hypoglycorrhachia. We describe a 10‐year‐old normocephalic male with prominent ataxia, dystonia, ch