Mutational and functional analysis of Glucose transporter I deficiency syndrome

Molecular Genetics and Metabolism

Volumn 116, Issue 3, 2015, Pages 157-162

  Nakamura, Sachie ^a   Osaka, Hitoshi ^a   Muramatsu, Shinichi ^a,b   Aoki, Shiho ^a   Jimbo, Eriko F ^a   Yamagata, Takanori ^a  

^a JICHI MEDICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

Author keywords

2 deoxyglucose uptake; Functional assay; Glucose transporter I deficiency syndrome (GLUT1 DS); GLUT1; SLC2A1

Indexed keywords

DEOXYGLUCOSE; GLUCOSE TRANSPORTER 1; GLUCOSE TRANSPORTER; SLC2A1 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENE SEQUENCE; GLUCOSE TRANSPORT; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; HEK293 CELL LINE; HUMAN; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; KETOGENIC DIET; MISSENSE MUTATION; PRIORITY JOURNAL; TONIC CLONIC SEIZURE; TRANSIENT EXPRESSION; WESTERN BLOTTING; WILD TYPE; DEFICIENCY; DISORDERS OF CARBOHYDRATE METABOLISM; DNA SEQUENCE; FRAMESHIFT MUTATION; GENETICS; GENOTYPE; MALE; METABOLISM; PATHOPHYSIOLOGY;

ADOLESCENT; CARBOHYDRATE METABOLISM, INBORN ERRORS; DEOXYGLUCOSE; FRAMESHIFT MUTATION; GENOTYPE; GLUCOSE TRANSPORTER TYPE 1; HEK293 CELLS; HUMANS; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 84948712440     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2015.08.006     Document Type: Article

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