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Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop.
Grünert SC, Derks TGJ, Mundy H, Dalton RN, Donadieu J, Hofbauer P, Jones N, Uçar SK, LaFreniere J, Contreras EL, Pendyal S, Rossi A, Schneider B, Spiegel R, Stepien KM, Wesol-Kucharska D, Veiga-da-Cunha M, Wortmann SB. Grünert SC, et al. Among authors: contreras el. Mol Genet Metab. 2024 Mar;141(3):108144. doi: 10.1016/j.ymgme.2024.108144. Epub 2024 Jan 17. Mol Genet Metab. 2024. PMID: 38277989 Free article. Review.
Person-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set.
Overduin RJ, Haijer-Schreuder AB, Withaar FK, Grünert SC, LaFreniere J, Contreras EL, Temkin GW, Stone-Schneider B, Vanneste F, Dekker H, Fokkert-Wilts MJ, van der Klauw MM, Weinstein DA, Rossi A, Derks TGJ; GSD Value Consortium. Overduin RJ, et al. Among authors: contreras el. Genet Med. 2025 Sep 23;27(12):101589. doi: 10.1016/j.gim.2025.101589. Online ahead of print. Genet Med. 2025. PMID: 41014099 Free article.