The Fanconi-Bickel syndrome: A case of neonatal onset

Journal of Perinatology

Volumn 24, Issue 5, 2004, Pages 322-323

  Riva, Silvia ^a   Ghisalberti, Carmela ^a   Parini, Rossella ^b   Furlan, Francesca ^b   Bettinelli, Alberto ^c   Somaschini, Marco ^a  

^a BOLOGNINI HOSPITAL   (Italy)

^b Istituti Clinici di Perfezionamento ^*  (Italy)

^c Ospedale di Merate   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALFACALCIDOL; ALKALINE PHOSPHATASE; BETA 2 MICROGLOBULIN; CYTOSINE; GALACTOSE; GLUCOSE; GLUCOSE TRANSPORTER 2; PHOSPHATE; THYMINE;

ALKALINE PHOSPHATASE BLOOD LEVEL; AMINOACIDURIA; ARTICLE; BETA 2 MICROGLOBULIN URINE LEVEL; CALORIC INTAKE; CASE REPORT; CLINICAL FEATURE; DIET THERAPY; ELECTROLYTE INTAKE; ENTERITIS; FANCONI RENOTUBULAR SYNDROME; GENE MUTATION; GENETIC ANALYSIS; GLUCOSE BLOOD LEVEL; GLUCOSURIA; HOMOZYGOSITY; HUMAN; HYPERGLYCEMIA; MALE; METABOLIC DISORDER; METABOLISM; MILK; NEWBORN; NEWBORN PERIOD; ONSET AGE; OUTCOMES RESEARCH; PHOSPHATURIA; PHYSICAL EXAMINATION; POLYURIA; PROTEINURIA;

AGE OF ONSET; FANCONI SYNDROME; GLYCOGEN STORAGE DISEASE; HUMANS; INFANT, NEWBORN; MALE;

EID: 2542476982     PISSN: 07438346     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.jp.7211092     Document Type: Article

References (4)

1. Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B. Fanconi-Bickel, syndrome - The original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. Eur J Pediatr 1998;157:783-97.
2. Santer R, Groth S, Kinner M, et al. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in Patients with Fanconi-Bickel syndrome. Hum Genet 2002;110:21-9.
3. Müller D, Santer R, Krowinkel M, Christiansen B, Schaub J. Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia. J Inher Metab Dis 1997;20:607-8.
4. Manz F, Bickel H, Brodehl J, et al. Fanconi-Bickel syndrome. Pediatr Nephrol 1987;1:509-18.