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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: weinreich ss. 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
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: weinreich ss. 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.
44 results