Associated Papers
Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells.
Wilmer MJ et al.
Biochimica Et Biophysica Acta, 2011
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
Wamelink MM et al.
Human Mutation, 2008
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.
Kiehntopf M et al.
Human Mutation, 2002
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