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266 results

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Page 1
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: harms e. 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.
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: harms e. 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.
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: harms e. J Neuromuscul Dis. 2019;6(4):503-515. doi: 10.3233/JND-190428. J Neuromuscul Dis. 2019. PMID: 31594245 Free PMC article.
Neuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: A cross-sectional analysis of 55 patients.
Vill K, Müller-Felber W, Landfarth T, Köppl C, Herzig N, Knerr C, Holla H, Steidle G, Harms E, Hohenfellner K; Interdisciplinary Cystinosis Group. Vill K, et al. Among authors: harms e. J Inherit Metab Dis. 2022 Mar;45(2):183-191. doi: 10.1002/jimd.12464. Epub 2022 Jan 13. J Inherit Metab Dis. 2022. PMID: 34888877
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.
Veys K, Zadora W, Hohenfellner K, Bockenhauer D, Janssen MCH, Niaudet P, Servais A, Topaloglu R, Besouw M, Novo R, Haffner D, Kanzelmeyer N, Pape L, Wühl E, Harms E, Awan A, Sikora P, Ariceta G, van den Heuvel B, Levtchenko E. Veys K, et al. Among authors: harms e. J Inherit Metab Dis. 2023 Jan;46(1):43-54. doi: 10.1002/jimd.12562. Epub 2022 Oct 6. J Inherit Metab Dis. 2023. PMID: 36117148
[Spinal muscular atrophy : Time for newborn screening?].
Vill K, Blaschek A, Schara U, Kölbel H, Hohenfellner K, Harms E, Olgemöller B, Walter MC, Müller-Felber W. Vill K, et al. Among authors: harms e. Nervenarzt. 2017 Dec;88(12):1358-1366. doi: 10.1007/s00115-017-0447-3. Nervenarzt. 2017. PMID: 29101527 Review. German.
Management of bone disease in cystinosis: Statement from an international conference.
Hohenfellner K, Rauch F, Ariceta G, Awan A, Bacchetta J, Bergmann C, Bechtold S, Cassidy N, Deschenes G, Elenberg E, Gahl WA, Greil O, Harms E, Herzig N, Hoppe B, Koeppl C, Lewis MA, Levtchenko E, Nesterova G, Santos F, Schlingmann KP, Servais A, Soliman NA, Steidle G, Sweeney C, Treikauskas U, Topaloglu R, Tsygin A, Veys K, V Vigier R, Zustin J, Haffner D. Hohenfellner K, et al. Among authors: harms e. J Inherit Metab Dis. 2019 Sep;42(5):1019-1029. doi: 10.1002/jimd.12134. Epub 2019 Aug 5. J Inherit Metab Dis. 2019. PMID: 31177550 Free PMC article.
266 results