Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening

M.M.C. Wamelink, E.A. Struys, E.E.W. Jansen, H.J. Blom, T. Vilboux, W.A. Gahl, M. Komhoff, C.A.J.M. Jakobs, E.N. Levtchenko

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)339-342
JournalMolecular Genetics and Metabolism
Issue number3
Publication statusPublished - 2011

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