Author Ensenauer, Regina
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2006 | Journal Article
Features, treatment, and outcome in an inborn error of creatine synthesis
Mercimek-Mahmutoglu, S.; Stoeckler-Ipsiroglu, S.; Adami, A.; Appleton, R.; Araujo, H. C.; Duran, M. & Ensenauer, R. et al. (2006)
Neurology, 67(3) pp. 480-484. DOI: https://doi.org/10.1212/01.wnl.0000234852.43688.bf
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2012 | Journal Article
Propionic acidemia: neonatal versus selective metabolic screening
Gruenert, S. C.; Muellerleile, S.; de Silva, L.; Barth, M.; Walter, M.; Walter, K. & Meissner, T. et al. (2012)
Journal of Inherited Metabolic Disease, 35(1) pp. 41-49. DOI: https://doi.org/10.1007/s10545-011-9419-0
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2012 | Journal Article
Mutation analysis in 54 propionic acidemia patients
Kraus, J. P.; Spector, E.; Venezia, S.; Estes, P.; Chiang, P. W.; Creadon-Swindell, G. & Muellerleile, S. et al. (2012)
Journal of Inherited Metabolic Disease, 35(1) pp. 51-63. DOI: https://doi.org/10.1007/s10545-011-9399-0
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2013 | Journal Article |
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
Gruenert, S. C.; Muellerleile, S.; De Silva, L.; Barth, M.; Walter, M.; Walter, K. & Meissner, T. et al. (2013)
Orphanet Journal of Rare Diseases, 8 art. 6. DOI: https://doi.org/10.1186/1750-1172-8-6
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2020 | Journal Article
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study
Märtner, E. M. C.; Maier, E. M.; Mengler, K.; Thimm, E.; Schiergens, K. A.; Marquardt, T. & Santer, R. et al. (2020)
Journal of Inherited Metabolic Disease,. DOI: https://doi.org/10.1002/jimd.12335
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