Author Rosewich, Hendrik

1 to 9 of 9 Items
  • 2005 Journal Article
    ​ ​Prosaposin deficiency - A rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient​
    Elleder, M.; Jerabkova, M.; Befekadu, A.; Hrebicek, M.; Berna, L.; Ledvinova, J. & Hulkova, H. et al.​ (2005) 
    Neuropediatrics36(3) pp. 171​-180​.​ DOI: https://doi.org/10.1055/s-2005-865608 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | Letter Note
    ​ ​Biopsy findings of symptomatic cerebral X-linked adrenoleucodystrophy and histological differentiation from multiple sclerosis​
    Pfeifenbring, S.; von Baumgarten, L.; Schueller, U.; Rosewich, H.; Thal, D. R.; Wirtz, C. R. & Hecht, M.-L. et al.​ (2014) 
    Neuropathology and Applied Neurobiology40(5) pp. 658​-661​.​ DOI: https://doi.org/10.1111/nan.12089 
    Details  DOI  PMID  PMC  WoS 
  • 2015 Journal Article | 
    ​ ​Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype​
    Jaffer, F.; Avbersek, A.; Vavassori, R.; Fons, C.; Campistol, J.; Stagnaro, M. & De Grandis, E. et al.​ (2015) 
    Brain138 pp. 2859​-2874​.​ DOI: https://doi.org/10.1093/brain/awv243 
    Details  DOI  PMID  PMC  WoS 
  • 2016 Journal Article
    ​ ​Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder​
    Luesebrink, N.; Porto, L.; Waterham, H. R.; Ferdinandusse, S.; Rosewich, H.; Kurlemann, G. & Kieslich, M.​ (2016) 
    European Journal of Paediatric Neurology20(2) pp. 331​-335​.​ DOI: https://doi.org/10.1016/j.ejpn.2015.11.008 
    Details  DOI  PMID  PMC  WoS 
  • 2018 Journal Article | Erratum
    ​ ​Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management​
    Tranebjærg, L.; Strenzke, N. ; Lindholm, S.; Rendtorff, N. D.; Poulsen, H.; Khandelia, H. & Kopec, W. et al.​ (2018) 
    Human Genetics (Berlin)137(3) pp. 279​-280​.​ DOI: https://doi.org/10.1007/s00439-018-1870-7 
    Details  DOI  PMID  PMC 
  • 2021 Journal Article | Research Paper | 
    ​ ​Targeted metabolomics revealed changes in phospholipids during the development of neuroinflammation in Abcd1 tm1Kds mice and X‐linked adrenoleukodystrophy patients​
    Kettwig, M.; Klemp, H.; Nessler, S.; Streit, F.; Krätzner, R.; Rosewich, H. & Gärtner, J. ​ (2021) 
    Journal of Inherited Metabolic Disease44(5) pp. 1174​-1185​.​ DOI: https://doi.org/10.1002/jimd.12389 
    Details  DOI  PMID  PMC 
  • 2022 Journal Article
    ​ ​How to Detect Isolated PEX10-Related Cerebellar Ataxia?​
    Nava, E.; Hartmann, B.; Boxheimer, L.; Capone Mori, A.; Nuoffer, J.-M.; Sargsyan, Y. & Thoms, S. et al.​ (2022) 
    Neuropediatrics,.​ DOI: https://doi.org/10.1055/s-0041-1741383 
    Details  DOI 
  • 2022 Journal Article
    ​ ​Clinical presentation and basic defect of the CFTR genotype p.Phe508del / p.Arg117His in a mother and her monozygous twin daughters​
    Lex, C.; Minso, R.; Alfeis, N.; Rosewich, H.; Schucht, S. & Tümmler, B.​ (2022) 
    Journal of Cystic Fibrosis21(2) pp. 375​-377​.​ DOI: https://doi.org/10.1016/j.jcf.2021.08.018 
    Details  DOI 
  • 2023 Journal Article
    ​ ​Association of Overweight and Obesity With Bell Palsy in Children​
    Breitling, V.; Leha, A.; Schiller, S.; Kruizenga, M.; Gärtner, J. & Rosewich, H.​ (2023) 
    Pediatric Neurology139 pp. 43​-48​.​ DOI: https://doi.org/10.1016/j.pediatrneurol.2022.11.007 
    Details  DOI 

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