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

doi:10.1016/j.ymgme.2010.12.002

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

Laboratory Medicine

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	339-342
Journal	Molecular Genetics and Metabolism
Volume	102
Issue number	3
DOIs	https://doi.org/10.1016/j.ymgme.2010.12.002
Publication status	Published - 2011

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10.1016/j.ymgme.2010.12.002

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Wamelink, M. M. C., Struys, E. A., Jansen, E. E. W., Blom, H. J., Vilboux, T., Gahl, W. A., Komhoff, M., Jakobs, C. A. J. M., & Levtchenko, E. N. (2011). Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening. Molecular Genetics and Metabolism, 102(3), 339-342. https://doi.org/10.1016/j.ymgme.2010.12.002

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Wamelink, MMC, Struys, EA, Jansen, EEW, Blom, HJ, Vilboux, T, Gahl, WA, Komhoff, M, Jakobs, CAJM & Levtchenko, EN 2011, 'Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening', Molecular Genetics and Metabolism, vol. 102, no. 3, pp. 339-342. https://doi.org/10.1016/j.ymgme.2010.12.002

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. et al.

In: Molecular Genetics and Metabolism, Vol. 102, No. 3, 2011, p. 339-342.

Research output: Contribution to journal › Article › Academic › peer-review

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AU - Wamelink, M.M.C.

AU - Struys, E.A.

AU - Jansen, E.E.W.

AU - Blom, H.J.

AU - Vilboux, T.

AU - Gahl, W.A.

AU - Komhoff, M.

AU - Jakobs, C.A.J.M.

AU - Levtchenko, E.N.

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DO - 10.1016/j.ymgme.2010.12.002

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SP - 339

EP - 342

JO - Molecular Genetics and Metabolism

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