- Tytuł:
- Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.
- Autorzy:
- Źródło:
- Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 May; Vol. 10 (5), pp. 787-801. Date of Electronic Publication: 2023 Mar 31.
- Typ publikacji:
- Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Carbohydrate Metabolism, Inborn Errors*/genetics
Carbohydrate Metabolism, Inborn Errors*/diagnosis
Humans ; Phenotype ; Monosaccharide Transport Proteins/genetics ; Mutation, Missense ; Glucose Transporter Type 1/genetics - SCR Disease Name:
- Glut1 Deficiency Syndrome
Czasopismo naukowe