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Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance.
Burgard P, Rupp K, Lindner M, Haege G, Rigter T, Weinreich SS, Loeber JG, Taruscio D, Vittozzi L, Cornel MC, Hoffmann GF. Burgard P, et al. Among authors: cornel mc. J Inherit Metab Dis. 2012 Jul;35(4):613-25. doi: 10.1007/s10545-012-9484-z. Epub 2012 Apr 28. J Inherit Metab Dis. 2012. PMID: 22544437
[Orphanet: a European database for rare diseases].
Weinreich SS, Mangon R, Sikkens JJ, Teeuw ME, Cornel MC. Weinreich SS, et al. Among authors: cornel mc. Ned Tijdschr Geneeskd. 2008 Mar 1;152(9):518-9. Ned Tijdschr Geneeskd. 2008. PMID: 18389888 Dutch.
Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening.
Rigter T, Weinreich SS, van El CG, de Vries JM, van Gelder CM, Güngör D, Reuser AJ, Hagemans ML, Cornel MC, van der Ploeg AT. Rigter T, et al. Among authors: cornel mc. Mol Genet Metab. 2012 Nov;107(3):448-55. doi: 10.1016/j.ymgme.2012.09.017. Epub 2012 Sep 21. Mol Genet Metab. 2012. PMID: 23040796 Free article.
278 results