D-ribose,
D-ribulose, and D-ribitol were purchased from Carbosynth.
D-galactose was from Merck Millipore.
Cytidine triphosphate,
D-xylulose,
D-xylose,
L-arabinose,
doxycycline, and 1 mol/L triethylammonium acetate were from Sigma.
CMP-N-acetylneuraminic acid,
UDPgalactose,
UDP-glucose, UDP-N-acetylgalactosamine,
UDP-N-acetylglucosamine,
GDP-mannose,
GDP-fucose,
ADP-ribose,
UDP-xylose, and
UDP-glucuronic acid were from Sigma or Carbosynth.
Rbo5P was produced as previously described (5 ) . CDP-ribitol was synthesized in vitro from Rbo5P and
Cytidine triphosphate with recombinantly produced human CRPPA enzyme from Escherichia coli (kind gift of Dr. W. Yue, Oxford) (5 ) . The internal standard, a 13 Cyeast extract containing [U- 13 C]-
UDP-glucose, was a kind gift of Dr. G. Hermann, Vienna.
van Tol W., van Scherpenzeel M., Alsady M., Riemersma M., Hermans E., Kragt E., Tasca G., Kamsteeg E.J., Pennings M., van Beusekom E., Vermeulen J.R., van Bokhoven H., Voermans N.C., Willemsen M.A., Ashikov A, & Lefeber D.J. (2019). Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy. Clinical chemistry, 65(10).