Seelhöfer A - Search Results

1

Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitro.

Heckmann K, Iuso A, Reunert J, Grüneberg M, Seelhöfer A, Rust S, Fiermonte G, Paradies E, Piazzolla C, Mannil M, Marquardt T. Heckmann K, et al. Among authors: seelhofer a. JIMD Rep. 2024 Aug 21;65(6):417-425. doi: 10.1002/jmd2.12441. eCollection 2024 Nov. JIMD Rep. 2024. PMID: 39512436 Free PMC article.

2

Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype.

Berendes LS, Westhoff PS, Wittkowski H, Seelhöfer A, Varga G, Marquardt T, Park JH. Berendes LS, et al. Among authors: seelhofer a. Mol Genet Metab Rep. 2023 Dec 15;38:101038. doi: 10.1016/j.ymgmr.2023.101038. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38178812 Free PMC article.

3

Mitochondrial DNA mutations in Medulloblastoma.

Funke VLE, Sandmann S, Melcher V, Seggewiss J, Horvath J, Jäger N, Kool M, Jones DTW, Pfister SM, Milde T, Rutkowski S, Mynarek M, Varghese J, Sträter R, Rust S, Seelhöfer A, Reunert J, Fiedler B, Schüller U, Marquardt T, Kerl K. Funke VLE, et al. Among authors: seelhofer a. Acta Neuropathol Commun. 2023 Jul 27;11(1):124. doi: 10.1186/s40478-023-01602-0. Acta Neuropathol Commun. 2023. PMID: 37501103 Free PMC article.

4

3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism.

Meyer M, Hollenbeck JC, Reunert J, Seelhöfer A, Rust S, Fobker M, Biskup S, Och U, Linden M, Sass JO, Marquardt T. Meyer M, et al. Among authors: seelhofer a. J Inherit Metab Dis. 2021 Nov;44(6):1323-1329. doi: 10.1002/jimd.12410. Epub 2021 Jul 5. J Inherit Metab Dis. 2021. PMID: 34176136

5

Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy-A Case Report.

Belkheir AM, Reunert J, Elpers C, van den Heuvel L, Rodenburg R, Seelhöfer A, Rust S, Jeibmann A, Frosch M, Marquardt T. Belkheir AM, et al. Among authors: seelhofer a. Front Neurol. 2021 Apr 27;12:643805. doi: 10.3389/fneur.2021.643805. eCollection 2021. Front Neurol. 2021. PMID: 33986717 Free PMC article.

6

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.

Park JH, Elpers C, Reunert J, McCormick ML, Mohr J, Biskup S, Schwartz O, Rust S, Grüneberg M, Seelhöfer A, Schara U, Boltshauser E, Spitz DR, Marquardt T. Park JH, et al. Among authors: seelhofer a. Brain. 2019 Aug 1;142(8):2230-2237. doi: 10.1093/brain/awz182. Brain. 2019. PMID: 31332433 Free PMC article.

7

Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I.

Reunert J, Rust S, Grüneberg M, Seelhöfer A, Kurz D, Ocker V, Weber D, Fingerhut R, Marquardt T. Reunert J, et al. Among authors: seelhofer a. Am J Med Genet A. 2019 Jul;179(7):1371-1375. doi: 10.1002/ajmg.a.61190. Epub 2019 May 10. Am J Med Genet A. 2019. PMID: 31075182

8

News on Clinical Details and Treatment in PGM1-CDG.

Schrapers E, Tegtmeyer LC, Simic-Schleicher G, Debus V, Reunert J, Balbach S, Klingel K, Du Chesne I, Seelhöfer A, Fobker M, Marquardt T, Rust S. Schrapers E, et al. Among authors: seelhofer a. JIMD Rep. 2016;26:77-84. doi: 10.1007/8904_2015_471. Epub 2015 Aug 25. JIMD Rep. 2016. PMID: 26303607 Free PMC article.

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