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Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Clin Genet. 2023 Jun;103(6):644-654. doi: 10.1111/cge.14316. Epub 2023 Mar 13.
Clin Genet. 2023.
PMID: 36840705
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S.
Boy N, et al. Among authors: martner emc.
J Inherit Metab Dis. 2023 May;46(3):482-519. doi: 10.1002/jimd.12566. Epub 2022 Nov 17.
J Inherit Metab Dis. 2023.
PMID: 36221165
Free article.
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Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Märtner EMC, Thimm E, Guder P, Schiergens KA, Rutsch F, Roloff S, Marquardt I, Das AM, Freisinger P, Grünert SC, Krämer J, Baumgartner MR, Beblo S, Haase C, Dieckmann A, Lindner M, Näke A, Hoffmann GF, Mühlhausen C, Walter M, Garbade SF, Maier EM, Kölker S, Boy N.
Märtner EMC, et al.
Sci Rep. 2021 Oct 12;11(1):20618. doi: 10.1038/s41598-021-00137-5.
Sci Rep. 2021.
PMID: 34642359
Free PMC article.
No abstract available.
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The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Märtner EMC, Thimm E, Guder P, Schiergens KA, Rutsch F, Roloff S, Marquardt I, Das AM, Freisinger P, Grünert SC, Krämer J, Baumgartner MR, Beblo S, Haase C, Dieckmann A, Lindner M, Näke A, Hoffmann GF, Mühlhausen C, Walter M, Garbade SF, Maier EM, Kölker S, Boy N.
Märtner EMC, et al.
Sci Rep. 2021 Sep 29;11(1):19300. doi: 10.1038/s41598-021-98809-9.
Sci Rep. 2021.
PMID: 34588557
Free PMC article.
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Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
Märtner EMC, Maier EM, Mengler K, Thimm E, Schiergens KA, Marquardt T, Santer R, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer-Seifert J, Lenz D, Hoffmann GF, Mühlhausen C, Ensenauer R, Garbade SF, Kölker S, Boy N.
Märtner EMC, et al.
J Inherit Metab Dis. 2021 May;44(3):629-638. doi: 10.1002/jimd.12335. Epub 2020 Dec 15.
J Inherit Metab Dis. 2021.
PMID: 33274439
Free article.
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