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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: hoffmann gf. 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
50 years of newborn screening.
Hoffmann GF, Lindner M, Loeber JG. Hoffmann GF, et al. J Inherit Metab Dis. 2014 Mar;37(2):163-4. doi: 10.1007/s10545-014-9688-5. J Inherit Metab Dis. 2014. PMID: 24526389 No abstract available.
Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population.
Sommerburg O, Lindner M, Muckenthaler M, Kohlmueller D, Leible S, Feneberg R, Kulozik AE, Mall MA, Hoffmann GF. Sommerburg O, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S263-71. doi: 10.1007/s10545-010-9174-7. Epub 2010 Aug 17. J Inherit Metab Dis. 2010. PMID: 20714932
Diagnosis and management of glutaric aciduria type I--revised recommendations.
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P. Kölker S, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2011 Jun;34(3):677-94. doi: 10.1007/s10545-011-9289-5. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431622 Free PMC article. Review.
599 results