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[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: nennstiel u. Nervenarzt. 2022 Feb;93(2):135-141. doi: 10.1007/s00115-021-01204-y. Epub 2021 Oct 15. Nervenarzt. 2022. PMID: 34652481 Review. German.
One Year of Newborn Screening for SMA - Results of a German Pilot Project.
Vill K, Kölbel H, Schwartz O, Blaschek A, Olgemöller B, Harms E, Burggraf S, Röschinger W, Durner J, Gläser D, Nennstiel U, Wirth B, Schara U, Jensen B, Becker M, Hohenfellner K, Müller-Felber W. Vill K, et al. Among authors: nennstiel u. J Neuromuscul Dis. 2019;6(4):503-515. doi: 10.3233/JND-190428. J Neuromuscul Dis. 2019. PMID: 31594245 Free PMC article.
Molecular based newborn screening in Germany: Follow-up for cystinosis.
Hohenfellner K, Bergmann C, Fleige T, Janzen N, Burggraf S, Olgemöller B, Gahl WA, Czibere L, Froschauer S, Röschinger W, Vill K, Harms E, Nennstiel U. Hohenfellner K, et al. Among authors: nennstiel u. Mol Genet Metab Rep. 2019 Sep 18;21:100514. doi: 10.1016/j.ymgmr.2019.100514. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31641587 Free PMC article.
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
Müller-Felber W, Vill K, Schwartz O, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Müller C, Hannibal I, Olgemöller B, Schara U, Blaschek A, Kölbel H. Müller-Felber W, et al. Among authors: nennstiel u. J Neuromuscul Dis. 2020;7(2):109-117. doi: 10.3233/JND-200475. J Neuromuscul Dis. 2020. PMID: 32144995 Free PMC article.
Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis-implications for process quality and patient care.
Gramer G, Brockow I, Labitzke C, Fang-Hoffmann J, Beivers A, Feyh P, Hoffmann GF, Nennstiel U, Sommerburg O. Gramer G, et al. Among authors: nennstiel u. Eur J Pediatr. 2021 Apr;180(4):1145-1155. doi: 10.1007/s00431-020-03849-4. Epub 2020 Oct 26. Eur J Pediatr. 2021. PMID: 33104872 Free PMC article.
Erratum to "Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?".
Müller-Felber W, Vill K, Schwartz O, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Müller C, Hannibal I, Olgemöller B, Schara U, Blaschek A, Kölbel H. Müller-Felber W, et al. Among authors: nennstiel u. J Neuromuscul Dis. 2021;8(2):335-336. doi: 10.3233/JND-219002. J Neuromuscul Dis. 2021. PMID: 33579869 Free PMC article. No abstract available.
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.
Vill K, Schwartz O, Blaschek A, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Czibere L, Durner J, Eggermann K, Olgemöller B, Harms E, Schara U, Kölbel H, Müller-Felber W. Vill K, et al. Among authors: nennstiel u. Orphanet J Rare Dis. 2021 Mar 31;16(1):153. doi: 10.1186/s13023-021-01783-8. Orphanet J Rare Dis. 2021. PMID: 33789695 Free PMC article.
35 results