Fanconi-Bickel syndrome and fertility

American Journal of Medical Genetics, Part A

Volumn 155, Issue 10, 2011, Pages 2607-

  Von Schnakenburg, Christian ^a,b   Santer, René ^b  

^a KLINIKUM ESSLINGEN   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE TRANSPORTER 2; PHOSPHATE; VITAMIN D;

ADULTHOOD; CONSANGUINEOUS MARRIAGE; DIET THERAPY; DISEASE COURSE; FANCONI BICKEL SYNDROME; GALACTOSEMIA; GENETIC COUNSELING; GLUCOSURIA; HETEROZYGOTE; HUMAN; INBORN ERROR OF METABOLISM; INHERITANCE; KIDNEY TUBULE DISORDER; LETTER; MALE FERTILITY; METABOLIC DISORDER; MUTATIONAL ANALYSIS; PATERNITY; PHOSPHATE WASTING; POLYURIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PSEUDO DOMINANT INHERITANCE; STOP CODON;

FEMALE; GLUCOSE TRANSPORTER TYPE 2; HUMANS; MALE; PHENOTYPE; PREGNANCY;

EID: 80053129155     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34202     Document Type: Letter

References (3)

1. Pena L, Charrow J. 2011. Fanconi-Bickel syndrome: Report of life history and successful pregnancy in an affected patient. Am J Med Genet Part A 155A: 415-417.
2. Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J. 1997. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet 17: 324-326.
3. Santer R, Steinmann B, Schaub J. 2002. Fanconi-Bickel syndrome-A congenital defect of facilitative glucose transport. Curr Mol Med 2: 213-227.