Schumann A - Search Results

1

Targeted Metabolic Profiling of Methionine Cycle Metabolites and Redox Thiol Pools in Mammalian Plasma, Cells and Urine.

Behringer S, Wingert V, Oria V, Schumann A, Grünert S, Cieslar-Pobuda A, Kölker S, Lederer AK, Jacobsen DW, Staerk J, Schilling O, Spiekerkoetter U, Hannibal L. Behringer S, et al. Among authors: schumann a. Metabolites. 2019 Oct 18;9(10):235. doi: 10.3390/metabo9100235. Metabolites. 2019. PMID: 31635306 Free PMC article.

2

Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria.

Ruppert T, Schumann A, Gröne HJ, Okun JG, Kölker S, Morath MA, Sauer SW. Ruppert T, et al. Among authors: schumann a. Hum Mol Genet. 2015 Dec 15;24(24):7049-59. doi: 10.1093/hmg/ddv405. Epub 2015 Sep 29. Hum Mol Genet. 2015. PMID: 26420839 Free article.

3

Successful pregnancy in maple syrup urine disease: a case report and review of the literature.

Grünert SC, Rosenbaum-Fabian S, Schumann A, Schwab KO, Mingirulli N, Spiekerkoetter U. Grünert SC, et al. Among authors: schumann a. Nutr J. 2018 May 12;17(1):51. doi: 10.1186/s12937-018-0357-7. Nutr J. 2018. PMID: 29753318 Free PMC article. Review.

4

Unsuccessful intravenous D-mannose treatment in PMM2-CDG.

Grünert SC, Marquardt T, Lausch E, Fuchs H, Thiel C, Sutter M, Schumann A, Hannibal L, Spiekerkoetter U. Grünert SC, et al. Among authors: schumann a. Orphanet J Rare Dis. 2019 Oct 22;14(1):231. doi: 10.1186/s13023-019-1213-3. Orphanet J Rare Dis. 2019. PMID: 31640729 Free PMC article.

5

Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!

Grünert SC, Tucci S, Schumann A, Schwendt M, Gramer G, Hoffmann GF, Erbel M, Stiller B, Spiekerkoetter U. Grünert SC, et al. Among authors: schumann a. Orphanet J Rare Dis. 2020 Apr 10;15(1):87. doi: 10.1186/s13023-020-01371-2. Orphanet J Rare Dis. 2020. PMID: 32276632 Free PMC article.

6

Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise.

Dimitrov B, Molema F, Williams M, Schmiesing J, Mühlhausen C, Baumgartner MR, Schumann A, Kölker S. Dimitrov B, et al. Among authors: schumann a. J Inherit Metab Dis. 2021 Jan;44(1):9-21. doi: 10.1002/jimd.12254. Epub 2020 May 27. J Inherit Metab Dis. 2021. PMID: 32412122 Free article. Review.

7

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib.

Grünert SC, Elling R, Maag B, Wortmann SB, Derks TGJ, Hannibal L, Schumann A, Rosenbaum-Fabian S, Spiekerkoetter U. Grünert SC, et al. Among authors: schumann a. Orphanet J Rare Dis. 2020 Aug 24;15(1):218. doi: 10.1186/s13023-020-01503-8. Orphanet J Rare Dis. 2020. PMID: 32838757 Free PMC article.

8

Citrin deficiency mimicking mitochondrial depletion syndrome.

Grünert SC, Schumann A, Freisinger P, Rosenbaum-Fabian S, Schmidts M, Mueller AJ, Beck-Wödl S, Haack TB, Schneider H, Fuchs H, Teufel U, Gramer G, Hannibal L, Spiekerkoetter U. Grünert SC, et al. Among authors: schumann a. BMC Pediatr. 2020 Nov 11;20(1):518. doi: 10.1186/s12887-020-02409-x. BMC Pediatr. 2020. PMID: 33176737 Free PMC article.

9

Three successful pregnancies in a patient with glycogen storage disease type 0.

Grünert SC, Rosenbaum-Fabian S, Hannibal L, Schumann A, Spiekerkötter U. Grünert SC, et al. Among authors: schumann a. JIMD Rep. 2020 Oct 26;57(1):38-43. doi: 10.1002/jmd2.12178. eCollection 2021 Jan. JIMD Rep. 2020. PMID: 33473338 Free PMC article.

10

Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.

Grünert SC, Foster W, Schumann A, Lund A, Pontes C, Roloff S, Weinhold N, Yue WW, AlAsmari A, Obaid OA, Faqeih EA, Stübbe L, Yamamoto R, Gemperle-Britschgi C, Walter M, Spiekerkoetter U, Mackinnon S, Sass JO. Grünert SC, et al. Among authors: schumann a. Biochimie. 2021 Apr;183:55-62. doi: 10.1016/j.biochi.2021.02.003. Epub 2021 Feb 14. Biochimie. 2021. PMID: 33596448

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