Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening
| Title: | Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening |
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| Authors: | 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. |
| Source: | In Molecular Genetics and Metabolism 2011 102(3):339-342 |
| Database: | ScienceDirect |
| ISSN: | 10967192 |
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| DOI: | 10.1016/j.ymgme.2010.12.002 |
| Published in: | Molecular Genetics and Metabolism |
| Language: | English |