An Infant with Pseudohyperkalemia, Hemolysis, and Seizures: Cation-Leaky GLUT1-Deficiency Syndrome due to a SLC2A1 Mutation
Bawazir, Waleed M., Gevers, Evelien F., Flatt, Joanna F., Ang, Ai Leen, Jacobs, Benjamin, Oren, Caroline, Grunewald, Stephanie, Dattani, Mehul, Bruce, Lesley J., Stewart, Gordon W.Volume:
97
Language:
english
Journal:
The Journal of Clinical Endocrinology & Metabolism
DOI:
10.1210/jc.2012-1399
Date:
June, 2012
File:
PDF, 927 KB
english, 2012