Yüklüyor......
A Cause of Permanent Ketosis: GLUT-1 Deficiency
GLUT-1-deficiency syndrome (GLUT1-DS; OMIM 606777) is a treatable metabolic disorder caused by a mutation of SLC2A1 gene. The functional deficiency of the GLUT1 protein leads to an impaired glucose transport into the brain, resulting in neurologic disorders. We report on a 6-month-old boy with prepr...
Kaydedildi:
| Yayımlandı: | JIMD Rep |
|---|---|
| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Springer Berlin Heidelberg
2014
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4361925/ https://ncbi.nlm.nih.gov/pubmed/25256448 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_352 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|