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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 1
2004 1
2005 4
2006 3
2007 1
2008 1
2009 1
2011 1
2012 2
2018 1
2019 4
2020 4
2021 7
2022 2
2023 4
2024 2

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36 results

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Page 1
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
Reischl-Hajiabadi AT, Okun JG, Kohlmüller D, Manukjan G, Hegert S, Durner J, Schuhmann E, Hörster F, Mütze U, Feyh P, Hoffmann GF, Röschinger W, Janzen N, Opladen T. Reischl-Hajiabadi AT, et al. Among authors: roschinger w. Mol Genet Metab. 2024 Mar;141(3):108148. doi: 10.1016/j.ymgme.2024.108148. Epub 2024 Jan 31. Mol Genet Metab. 2024. PMID: 38302374 Free article.
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
Maier EM, Mütze U, Janzen N, Steuerwald U, Nennstiel U, Odenwald B, Schuhmann E, Lotz-Havla AS, Weiss KJ, Hammersen J, Weigel C, Thimm E, Grünert SC, Hennermann JB, Freisinger P, Krämer J, Das AM, Illsinger S, Gramer G, Fang-Hoffmann J, Garbade SF, Okun JG, Hoffmann GF, Kölker S, Röschinger W. Maier EM, et al. Among authors: roschinger w. J Inherit Metab Dis. 2023 Nov;46(6):1043-1062. doi: 10.1002/jimd.12671. Epub 2023 Sep 12. J Inherit Metab Dis. 2023. PMID: 37603033
Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
Müller-Felber W, Blaschek A, Schwartz O, Gläser D, Nennstiel U, Brockow I, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Kölbel H, Müller C, Hannibal I, Olgemöller B, Schara U, von Moers A, Trollmann R, Johannssen J, Ziegler A, Cirak S, Hahn A, von der Hagen M, Weiss C, Schreiber G, Flotats-Bastardas M, Hartmann H, Illsinger S, Pechmann A, Horber V, Kirschner J, Köhler C, Winter B, Friese J, Vill K. Müller-Felber W, et al. Among authors: roschinger w. J Neuromuscul Dis. 2023;10(1):55-65. doi: 10.3233/JND-221577. J Neuromuscul Dis. 2023. PMID: 36463459 Free PMC article.
Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32.
Spenger J, Maier EM, Wechselberger K, Bauder F, Kocher M, Sperl W, Preisel M, Schiergens KA, Konstantopoulou V, Röschinger W, Häberle J, Schmitt-Mechelke T, Wortmann SB, Fingerhut R. Spenger J, et al. Among authors: roschinger w. Int J Neonatal Screen. 2021 Dec 31;8(1):2. doi: 10.3390/ijns8010002. Int J Neonatal Screen. 2021. PMID: 35076458 Free PMC article.
[Newborn screening program for spinal muscular atrophy].
Kölbel H, Vill K, Schwartz O, Blaschek A, Nennstiel U, Schara-Schmidt U, Hoffmann GF, Gläser D, Röschinger W, Bernert G, Klein A, Müller-Felber W. Kölbel H, et al. Among authors: roschinger w. Nervenarzt. 2022 Feb;93(2):135-141. doi: 10.1007/s00115-021-01204-y. Epub 2021 Oct 15. Nervenarzt. 2022. PMID: 34652481 Review. German.
36 results