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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. 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.
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
Rüegger CM, Lindner M, Ballhausen D, Baumgartner MR, Beblo S, Das A, Gautschi M, Glahn EM, Grünert SC, Hennermann J, Hochuli M, Huemer M, Karall D, Kölker S, Lachmann RH, Lotz-Havla A, Möslinger D, Nuoffer JM, Plecko B, Rutsch F, Santer R, Spiekerkoetter U, Staufner C, Stricker T, Wijburg FA, Williams M, Burgard P, Häberle J. Rüegger CM, et al. Among authors: huemer m. J Inherit Metab Dis. 2014 Jan;37(1):21-30. doi: 10.1007/s10545-013-9624-0. Epub 2013 Jun 19. J Inherit Metab Dis. 2014. PMID: 23780642 Free PMC article.
Diagnosis and Care of Infants and Children with Pompe Disease.
Hahn A, Hennermann JB, Huemer M, Kampmann C, Marquardt T, Mengel E, Müller-Felber W, Muschol N, Rohrbach M, Stehling F. Hahn A, et al. Among authors: huemer m. Klin Padiatr. 2020 Feb 18. doi: 10.1055/a-1110-7335. Online ahead of print. Klin Padiatr. 2020. PMID: 32069498 English.
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
Löscher WN, Huemer M, Stulnig TM, Simschitz P, Iglseder S, Eggers C, Moser H, Möslinger D, Freilinger M, Lagler F, Grinzinger S, Reichhardt M, Bittner RE, Schmidt WM, Lex U, Brunner-Krainz M, Quasthoff S, Wanschitz JV. Löscher WN, et al. Among authors: huemer m. J Neurol. 2018 Jan;265(1):159-164. doi: 10.1007/s00415-017-8686-6. Epub 2017 Nov 27. J Neurol. 2018. PMID: 29181627 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: huemer m. 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: huemer m. 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
219 results