A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target? [electronic resource]
Producer: 20190205Description: 331-336 p. digitalISSN:- 1096-7206
- Blood-Brain Barrier -- metabolism
- Carbohydrate Metabolism, Inborn Errors -- cerebrospinal fluid
- DNA-Binding Proteins -- genetics
- Down-Regulation
- Female
- Frameshift Mutation
- Glucose -- cerebrospinal fluid
- Glucose Transporter Type 1 -- metabolism
- Humans
- Infant, Newborn
- Leukocytes -- metabolism
- Monosaccharide Transport Proteins -- cerebrospinal fluid
- Transcription Factors -- genetics
- Exome Sequencing
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Publication Type: Case Reports; Journal Article
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