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Organic acidurias in adults: late complications and management.
J Inherit Metab Dis. 2018 Sep;41(5):765-776. doi: 10.1007/s10545-017-0135-2. Epub 2018 Jan 15.
J Inherit Metab Dis. 2018.
PMID: 29335813
Review.
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
Hörster F, Tuncel AT, Gleich F, Plessl T, Froese SD, Garbade SF, Kölker S, Baumgartner MR; Additional Contributors from E-IMD.
Hörster F, et al. Among authors: tuncel at.
J Inherit Metab Dis. 2021 Jan;44(1):193-214. doi: 10.1002/jimd.12297. Epub 2020 Sep 15.
J Inherit Metab Dis. 2021.
PMID: 32754920
Free article.
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"Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
Raynor A, Bruneel A, Vermeersch P, Cholet S, Friedrich S, Eckenweiler M, Schumann A, Hengst S, Tuncel AT, Fenaille F, Thiel C, Rymen D.
Raynor A, et al. Among authors: tuncel at.
Proteomics Clin Appl. 2024 Mar;18(2):e2300040. doi: 10.1002/prca.202300040. Epub 2023 Oct 24.
Proteomics Clin Appl. 2024.
PMID: 37876147
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Maleic Acid--but Not Structurally Related Methylmalonic Acid--Interrupts Energy Metabolism by Impaired Calcium Homeostasis.
Tuncel AT, Ruppert T, Wang BT, Okun JG, Kölker S, Morath MA, Sauer SW.
Tuncel AT, et al.
PLoS One. 2015 Jun 18;10(6):e0128770. doi: 10.1371/journal.pone.0128770. eCollection 2015.
PLoS One. 2015.
PMID: 26086473
Free PMC article.
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