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The "Young Metabolic Society": An interest group for young professionals in the field of metabolic medicine.
J Inherit Metab Dis. 2021 Jul;44(4):789. doi: 10.1002/jimd.12409. Epub 2021 Jun 23.
J Inherit Metab Dis. 2021.
PMID: 34131931
No abstract available.
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
Klinke G, Richter S, Monostori P, Schmidt-Mader B, García-Cazorla A, Artuch R, Christ S, Opladen T, Hoffmann GF, Blau N, Okun JG.
Klinke G, et al. Among authors: christ s.
J Inherit Metab Dis. 2020 Jul;43(4):712-725. doi: 10.1002/jimd.12213. Epub 2020 Jan 23.
J Inherit Metab Dis. 2020.
PMID: 31930732
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Validated UPLC-MS/MS method for the analysis of vitamin B6 pyridoxal 5́-phosphate, pyridoxal, pyridoxine, pyridoxamine, and pyridoxic acid in human cerebrospinal fluid.
Rossmann J, Christ S, Richter S, Friedrich Garbade S, Friedrich Hoffmann G, Opladen T, Günther Okun J.
Rossmann J, et al. Among authors: christ s.
J Chromatogr B Analyt Technol Biomed Life Sci. 2022 Dec 1;1212:123503. doi: 10.1016/j.jchromb.2022.123503. Epub 2022 Oct 14.
J Chromatogr B Analyt Technol Biomed Life Sci. 2022.
PMID: 36279779
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Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
Reischl-Hajiabadi AT, Schnabel E, Gleich F, Mengler K, Lindner M, Burgard P, Posset R, Lommer-Steinhoff S, Grünert SC, Thimm E, Freisinger P, Hennermann JB, Krämer J, Gramer G, Lenz D, Christ S, Hörster F, Hoffmann GF, Garbade SF, Kölker S, Mütze U.
Reischl-Hajiabadi AT, et al. Among authors: christ s.
J Inherit Metab Dis. 2024 Apr 2. doi: 10.1002/jimd.12731. Online ahead of print.
J Inherit Metab Dis. 2024.
PMID: 38563533
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Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
Kotzaeridou U, Young-Baird SK, Suckow V, Thornburg AG, Wagner M, Harting I, Christ S, Strom T, Dever TE, Kalscheuer VM.
Kotzaeridou U, et al. Among authors: christ s.
Clin Genet. 2020 Nov;98(5):507-514. doi: 10.1111/cge.13831. Epub 2020 Sep 4.
Clin Genet. 2020.
PMID: 32799315
Free PMC article.
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Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denommé AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H; FREX Consortium; Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, Liebau E, Bonneau D.
Colin E, et al. Among authors: christ s.
Am J Hum Genet. 2016 Sep 1;99(3):695-703. doi: 10.1016/j.ajhg.2016.06.030. Epub 2016 Aug 18.
Am J Hum Genet. 2016.
PMID: 27545681
Free PMC article.
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