|1.||Jansen, E E W: 1 article (03/2011)|
|2.||Gahl, W A: 1 article (03/2011)|
|3.||Vilboux, T: 1 article (03/2011)|
|4.||Blom, H J: 1 article (03/2011)|
|5.||Levtchenko, E N: 1 article (03/2011)|
|6.||Kömhoff, M: 1 article (03/2011)|
|7.||Struys, E A: 1 article (03/2011)|
|8.||Wamelink, M M C: 1 article (03/2011)|
|9.||Jakobs, C: 1 article (03/2011)|
|10.||Villamiel, Mar: 1 article (07/2010)|
04/01/2008 - "Enzyme studies performed on fibroblast homogenates derived from patients carrying the 57-kb deletion revealed 80% reduction in their sedoheptulose phosphorylating activity compared to cystinosis patients with other mutations and controls. "
03/01/2011 - "There was no overlap in sedoheptulose levels between cystinosis patients homozygous for the 57-kb deletion and cystinosis patients not homozygous for this deletion. "
03/01/2011 - "The assessment of sedoheptulose in a bloodspot from a known cystinosis patient homozygous for the 57-kb deletion retrieved from the Dutch neonatal screening program showed that sedoheptulose was already elevated in the neonatal period. "
03/01/2011 - "Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening."
04/01/2008 - "Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene."
06/01/2010 - "scabra, including those involved in photosynthesis [RuBisCo, RuBisCo activase, chloroplastic glyceraldehydes-3-phosphate dehydrogenase (GAPDH), chloroplastic aldolase, oxygen-evolving complex, photosystem I subunits], dark respiration (cytosolic GAPDH, cytoplasmic aldolase, malate dehydrogenase, hydroxypyruvate reductase, sedoheptulose-1,7-bisphosphatase), photorespiration [(hydroxypyruvate reductase, alanine aminotransferase (AlaAT), hydroxymethyltransferase (SHMT), glycine decarboxylase (GDC)], as well as heat and oxidative stress protection [heat shock cognate (HSC) 70 and FtsH-like protein]."
|3.||Dehydration (Water Stress)
|1.||Glycine Dehydrogenase (Decarboxylating)
|3.||Photosystem I Protein Complex (Photosystem I)
|4.||Ribulose-Bisphosphate Carboxylase (Rubisco)
|5.||Tissue Plasminogen Activator (Alteplase)
|8.||Malate Dehydrogenase (Dehydrogenase, Malate)
|10.||Fructose-Bisphosphate Aldolase (Aldolase)