Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening
Wamelink, M.M.C., Struys, E.A., Jansen, E.E.W., Blom, H.J., Vilboux, T., Gahl, W.A., Kömhoff, M., Jakobs, C., Levtchenko, E.N.
Published in Molecular genetics and metabolism (01.03.2011)
Published in Molecular genetics and metabolism (01.03.2011)
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