Učitavanje...
An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation
Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2) gene. It is characterized by hepatorenal glycogen accumulation, tubular nephropathy and impaired utilization of glucose and galactose. In this communication, we present...
Spremljeno u:
| Izdano u: | J Pediatr Genet |
|---|---|
| Glavni autori: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Georg Thieme Verlag KG
2013
|
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5020967/ https://ncbi.nlm.nih.gov/pubmed/27625848 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-13056 |
| Oznake: |
Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!
|