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Page 1
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.
Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening.
Schnabel-Besson E, Garbade SF, Gleich F, Grünert SC, Krämer J, Thimm E, Hennermann JB, Freisinger P, Burgard P, Gramer G, Morath MA, Tuncel AT, Keßler S, Hoffmann GF, Kölker S, Mütze U. Schnabel-Besson E, et al. Among authors: tuncel at. J Inherit Metab Dis. 2025 Jan;48(1):e12784. doi: 10.1002/jimd.12784. Epub 2024 Aug 27. J Inherit Metab Dis. 2025. PMID: 39189622 Free PMC article.
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.
Šáhó R, Formánková R, Eisengart JB, Lund AM, Videbaek C, Gürbüz BB, Özbek NY, Al Jasmi F, Ješina P, Feillet F, Pochon C, Guémann AS, AlSayed M, Laktina S, Uçar SK, Aksoylar S, Lund TC, Orchard PJ, Eminoğlu FT, İleri T, Kasapkara ÇS, Yeşilipek A, Tuncel AT, Schulz A, Juríčková K, Hlavatá A, Santoro L, Magner M. Šáhó R, et al. Among authors: tuncel at. J Inherit Metab Dis. 2025 Jul;48(4):e70047. doi: 10.1002/jimd.70047. J Inherit Metab Dis. 2025. PMID: 40551549
"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