Newborn Screening

Elevated concentrations of seduheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnosis and neonatal screening

Journal of Molecular Genetics and Metabolism (2010); Wamelink, Struys, Jansen, Blom, Vilboux, Gahl, Komhoff, Jakobs, Levtchenko

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