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Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
Huemer M, Bürer C, Ješina P, Kožich V, Landolt MA, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla AS, Noss J, Parini R, Peters H, Plecko B, Ramos FJ, Schlune A, Tsiakas K, Zerjav Tansek M, Baumgartner MR. Huemer M, et al. Among authors: landolt ma. J Inherit Metab Dis. 2015 Sep;38(5):957-67. doi: 10.1007/s10545-014-9803-7. Epub 2014 Dec 20. J Inherit Metab Dis. 2015. PMID: 25526710 Free article.
Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism.
Zeltner NA, Baumgartner MR, Bondarenko A, Ensenauer R, Karall D, Kölker S, Mühlhausen C, Scholl-Bürgi S, Thimm E, Quitmann J, Burgard P, Landolt MA, Huemer M. Zeltner NA, et al. Among authors: landolt ma. JIMD Rep. 2017;37:27-35. doi: 10.1007/8904_2017_11. Epub 2017 Mar 1. JIMD Rep. 2017. PMID: 28247338 Free PMC article.
Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents.
Zeltner NA, Welsink-Karssies MM, Landolt MA, Bosshard-Bullinger D, Keller F, Bosch AM, Groenendijk M, Grünert SC, Karall D, Rettenbacher B, Scholl-Bürgi S, Baumgartner MR, Huemer M. Zeltner NA, et al. Among authors: landolt ma. Orphanet J Rare Dis. 2019 Nov 8;14(1):248. doi: 10.1186/s13023-019-1236-9. Orphanet J Rare Dis. 2019. PMID: 31703595 Free PMC article.
Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set.
Bösch F, Landolt MA, Baumgartner MR, Zeltner N, Kölker S, Gleich F, Burlina A, Cazzorla C, Packman W, V D Schwartz I, Vieira Neto E, Ribeiro MG, Martinelli D, Olivieri G, Huemer M. Bösch F, et al. Among authors: landolt ma. J Inherit Metab Dis. 2021 Jan;44(1):215-225. doi: 10.1002/jimd.12301. Epub 2020 Sep 22. J Inherit Metab Dis. 2021. PMID: 32785952
233 results