Fanconi-Bickel syndrome: Report of life history and successful pregnancy in an affected patient-Reference-Cited by-同舟云学术

Fanconi-Bickel syndrome: Report of life history and successful pregnancy in an affected patient

Published:2011-01-13 Issue:2 Volume:155 Page:415-417
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Pena Loren,Charrow Joel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33822/fullpdf

Reference7 articles.

1. Die chronische Aminoacidurie (Aminosaeurediabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit;Fanconi;Helv Paediatr Acta,1949

2. Pathological case of the month;Sahin;Arch Pediatr Adolesc Med,2000

3. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome;Santer;Hum Genet,2002a

4. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome;Santer;Nat Genet,1997

5. Fanconi-Bickel syndrome - the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature;Santer;Eur J Pediatr,1998

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