Elevated Concentrations of Seduheptulose in Bloodspots of Patients with Cystinosis Caused by the 57-kb Deletion: Implications for Diagnosis and Neonatal Screening
Author: M.M.C. Wamelink, E.A. Struys, E.E.W. Jansen, H.J. Blom, T. Vilboux, W.A. Gahl, M. Kömhoff, C. Jakobs, E.N. Levtchenko