First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene. [electronic resource]
Producer: 20110503Description: 170-3 p. digitalISSN:- 1872-7131
- Adolescent
- Asian People -- genetics
- Blood Glucose -- metabolism
- Carbohydrate Metabolism, Inborn Errors -- diet therapy
- Child, Preschool
- DNA Mutational Analysis
- Diet, Ketogenic -- methods
- Female
- Glucose -- cerebrospinal fluid
- Glucose Transporter Type 1 -- deficiency
- Guanosine -- analogs & derivatives
- Humans
- Male
- Monosaccharide Transport Proteins -- deficiency
- Mutation -- genetics
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.