Huemer M - Search Results

1

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.

2

Kinking and stenosis of the carotid artery associated with homolateral ischaemic brain infarction in a patient treated with cyclosporin A.

Huemer M, Emminger W, Trattnig S, Freilinger M, Wandl-Vergesslich K. Huemer M, et al. Eur J Pediatr. 1998 Jul;157(7):599-601. doi: 10.1007/s004310050887. Eur J Pediatr. 1998. PMID: 9686825

3

Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature.

Huemer M, Huemer C, Möslinger D, Huter D, Stöckler-Ipsiroglu S. Huemer M, et al. Among authors: huemer c. J Inherit Metab Dis. 2007 Oct;30(5):694-9. doi: 10.1007/s10545-007-0549-3. Epub 2007 Jul 11. J Inherit Metab Dis. 2007. PMID: 17628756 Review.

4

Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU).

Huemer M, Simma B, Mayr D, Möslinger D, Mühl A, Schmid I, Ulmer H, Bodamer OA. Huemer M, et al. J Inherit Metab Dis. 2012 Sep;35(5):817-21. doi: 10.1007/s10545-011-9448-8. Epub 2012 Jan 31. J Inherit Metab Dis. 2012. PMID: 22290024

5

Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey.

Lagler FB, Moder A, Rohrbach M, Hennermann J, Mengel E, Gökce S, Hundsberger T, Rösler KM, Karabul N, Huemer M. Lagler FB, et al. Among authors: huemer m. JIMD Rep. 2019 Jul 17;49(1):89-95. doi: 10.1002/jmd2.12062. eCollection 2019 Sep. JIMD Rep. 2019. PMID: 31497486 Free PMC article.

6

A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria.

Herle M, Brunner-Krainz M, Karall D, Goeschl B, Möslinger D, Zobel J, Plecko B, Scholl-Bürgi S, Spenger J, Wortmann SB, Huemer M. Herle M, et al. Among authors: huemer m. Orphanet J Rare Dis. 2021 Aug 19;16(1):367. doi: 10.1186/s13023-021-01996-x. Orphanet J Rare Dis. 2021. PMID: 34412683 Free PMC article.

7

The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease.

Truninger MI, Werner H, Landolt MA, Hahn A, Hennermann JB, Lagler FB, Möslinger D, Pfrimmer C, Rohrbach M, Huemer M. Truninger MI, et al. Among authors: huemer m. J Inherit Metab Dis. 2024 Nov;47(6):1348-1362. doi: 10.1002/jimd.12777. Epub 2024 Jul 9. J Inherit Metab Dis. 2024. PMID: 38979754 Free PMC article.

8

Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers.

Truninger MI, Werner H, Landolt MA, Hahn A, Hennermann JB, Lagler FB, Möslinger D, Pfrimmer C, Rohrbach M, Huemer M. Truninger MI, et al. Among authors: huemer m. Orphanet J Rare Dis. 2024 Sep 28;19(1):358. doi: 10.1186/s13023-024-03368-7. Orphanet J Rare Dis. 2024. PMID: 39342352 Free PMC article.

9

Incidence of pediatric rheumatic diseases in a regional population in Austria.

Huemer C, Huemer M, Dorner T, Falger J, Schacherl H, Bernecker M, Artacker G, Pilz I. Huemer C, et al. Among authors: huemer m. J Rheumatol. 2001 Sep;28(9):2116-9. J Rheumatol. 2001. PMID: 11550984

10

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.

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