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

✍ Scribed by M.M.C. Wamelink; E.A. Struys; E.E.W. Jansen; H.J. Blom; T. Vilboux; W.A. Gahl; M. Kömhoff; C. Jakobs; E.N. Levtchenko

• Book ID: 116989264
• Publisher: Elsevier Science
• Year: 2011
• Tongue: English
• Weight: 287 KB
• Volume: 102
• Category: Article
• ISSN: 1096-7192
• DOI: 10.1016/j.ymgme.2010.12.002