Llwytho...

No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome–Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3

The facilitative glucose transporter-1 (GLUT1) deficiency or de Vivo syndrome is a rare neuropediatric disorder characterized by drug-resistant epilepsy, acquired microcephaly, delayed psychomotor development, intermittent ataxia, and other paroxysmal neurological disorders due to the presence of do...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Bizec, C. Le, Nicole, S., Panagiotakaki, E., Seta, N., Vuillaumier-Barrot, S.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer International Publishing 2013
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3897803/
https://ncbi.nlm.nih.gov/pubmed/24002817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_253
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!