TitleDatePubMed ID
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?2015 Sep25647543
The sedoheptulose kinase CARKL directs macrophage polarization through control of glucose metabolism.2012 Jun 622682222
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening.2011 Mar21195649
Characterization of mammalian sedoheptulokinase and mechanism of formation of erythritol in sedoheptulokinase deficiency.2008 Oct 1518775706
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.2008 Apr18186520