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bibliographicCitation Wamelink MMC, Struys EA, Jansen EEW, Blom HJ, Vilboux T, Gahl WA, Kömhoff M, Jakobs C, Levtchenko EN. 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. 2011 Mar;102(3):339–42. doi: 10.1016/j.ymgme.2010.12.002.
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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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