Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype

Molecular Genetics and Metabolism

Volumn 105, Issue 3, 2012, Pages 433-437

  Grünert, Sarah Catharina ^a   Schwab, Karl Otfried ^a   Pohl, Martin ^a   Sass, Jörn Oliver ^a   Santer, René ^b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Fanconi Bickel syndrome; Glucose transport; Glucosuria; GLUT2; Glycogen storage disease; Tubular nephropathy

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CREATININE; GALACTOSE; GLUCOSE; GLUCOSE TRANSPORTER 2; SODIUM GLUCOSE COTRANSPORTER 1; SODIUM GLUCOSE COTRANSPORTER 2;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CASE REPORT; CHILD; CREATININE BLOOD LEVEL; DIET RESTRICTION; DISEASE COURSE; DISORDERS OF CARBOHYDRATE METABOLISM; FAILURE TO THRIVE; FANCONI BICKEL SYNDROME; FEMALE; FOLLOW UP; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GLOMERULUS FILTRATION RATE; GLUCOSE BLOOD LEVEL; GLUCOSE METABOLISM; GLUCOSURIA; HEPATOMEGALY; HETEROZYGOSITY; HUMAN; HYPOPHOSPHATEMIC RICKETS; KIDNEY HYPERTROPHY; MALE; MOLECULAR GENETICS; ORAL GLUCOSE TOLERANCE TEST; PHENOTYPE; PHYSICAL DEVELOPMENT; PRIORITY JOURNAL; PROTEINURIA;

CHILD; CHILD, PRESCHOOL; DIETARY CARBOHYDRATES; FAILURE TO THRIVE; FANCONI SYNDROME; FEMALE; GALACTOSE; GLUCOSE; GLUCOSE TRANSPORTER TYPE 2; GLYCOSURIA; HUMANS; MALE; MUTATION; PHENOTYPE;

EID: 84858285847     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.11.200     Document Type: Article

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