Fanconi-Bickel syndrome - The original patient and his natural history, historical steps leading to the primary defect, and a review of the literature

European Journal of Pediatrics

Volumn 157, Issue 10, 1998, Pages 783-797

  Santer, R ^a   Schneppenheim, R ^a   Suter, D ^c   Schaub, J ^a   Steinmann, B ^b  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c NONE

Author keywords

Facilitative glucose transport; Fanconi Bickel syndrome; Glut2; Glycogen storage disease

Indexed keywords

GLUCOSE TRANSPORTER;

AUTOSOMAL RECESSIVE DISORDER; CARBOHYDRATE METABOLISM; CASE REPORT; CLINICAL FEATURE; CONGENITAL DISORDER; FANCONI RENOTUBULAR SYNDROME; GLUCOSE TRANSPORT SYSTEM; HUMAN; MALE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW;

CHILD, PRESCHOOL; FANCONI SYNDROME; FOLLOW-UP STUDIES; GLUCOSE TRANSPORTER TYPE 2; GLYCOGEN STORAGE DISEASE; HEPATOMEGALY; HISTORY, 20TH CENTURY; HUMANS; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; PEDIGREE; PORTRAITS; SWITZERLAND;

EID: 0031705401     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050937     Document Type: Review

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