Disease: Pseudohyperkalemia Cardiff
- Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice
- Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia
- Human RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cells
- Label-free oxygen-metabolic photoacoustic microscopy in vivo
- Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S
- Pseudohyperkalemia due to cryohydrocytosis in GLUT1 deficiency syndrome. A case report and literature review
- South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects
- Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome
