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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
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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