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Successful pregnancy in a woman with glycogen storage disease type 6.
Grünert SC, Rosenbaum-Fabian S, Hannibal L, Schumann A, Spiekerkoetter U. Grünert SC, et al. Among authors: rosenbaum fabian s. Mol Genet Metab Rep. 2021 May 8;27:100770. doi: 10.1016/j.ymgmr.2021.100770. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 34026552 Free PMC article.
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: rosenbaum fabian s. 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.
Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.
Grünert SC, Hannibal L, Schumann A, Rosenbaum-Fabian S, Beck-Wödl S, Haack TB, Grimmel M, Bertrand M, Spiekerkoetter U. Grünert SC, et al. Among authors: rosenbaum fabian s. Diagnostics (Basel). 2021 Mar 12;11(3):500. doi: 10.3390/diagnostics11030500. Diagnostics (Basel). 2021. PMID: 33809020 Free PMC article.
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: rosenbaum fabian s. BMC Pediatr. 2020 Nov 11;20(1):518. doi: 10.1186/s12887-020-02409-x. BMC Pediatr. 2020. PMID: 33176737 Free PMC article.
How strict is galactose restriction in adults with galactosaemia? International practice.
Adam S, Akroyd R, Bernabei S, Bollhalder S, Boocock S, Burlina A, Coote T, Corthouts K, Dalmau J, Dawson S, Defourny S, De Meyer A, Desloovere A, Devlin Y, Diels M, Dokoupil K, Donald S, Evans S, Fasan I, Ferguson C, Ford S, Forga M, Gallo G, Grünert SC, Heddrich-Ellerbrok M, Heidenborg C, Jonkers C, Lefebure K, Luyten K, MacDonald A, Meyer U, Micciche A, Müller E, Portnoi P, Ripley S, Robert M, Robertson LV, Rosenbaum-Fabian S, Sahm K, Schultz S, Singleton K, Sjöqvist E, Stoelen L, Terry A, Thompson S, Timmer C, Vande Kerckhove K, van der Ploeg L, Van Driessche M, van Rijn M, van Teeffelen-Heithoff A, Vitoria I, Voillot C, Wenz J, Westbrook M, Wildgoose J, Zweers H. Adam S, et al. Mol Genet Metab. 2015 May;115(1):23-6. doi: 10.1016/j.ymgme.2015.03.008. Epub 2015 Apr 7. Mol Genet Metab. 2015. PMID: 25873073
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
Grohmann-Held K, Burgard P, Baerwald CGO, Beblo S, Vom Dahl S, Das A, Dokoupil K, Fleissner S, Freisinger P, Heddrich-Ellerbrok M, Jung A, Korpel V, Krämer J, Lier D, Maier EM, Meyer U, Mühlhausen C, Newger M, Och U, Plöckinger U, Rosenbaum-Fabian S, Rutsch F, Santer R, Schick P, Schwarz M, Spiekerkötter U, Strittmatter U, Thiele AG, Ziagaki A, Mütze U, Gleich F, Garbade SF, Kölker S. Grohmann-Held K, et al. Among authors: rosenbaum fabian s. J Inherit Metab Dis. 2022 Nov;45(6):1070-1081. doi: 10.1002/jimd.12544. Epub 2022 Aug 22. J Inherit Metab Dis. 2022. PMID: 36054426
17 results