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Page 1
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Grünert SC, Gautschi M, Baker J, Boyer M, Burlina A, Casswall T, Corpeleijn W, Çıki K, Cotter M, Crushell E, Derks TGJ, Haas D, Kilavuz S, Kingma SDK, Korman SH, Kozek A, de Laet C, Mundy H, Nassogne MC, Quintero V, Rossi A, Spenger J, Spiegel R, Stephenne X, Stojkov D, Tal G, Veiga-da Cunha M, Wortmann SB. Grünert SC, et al. Among authors: wortmann sb. Mol Genet Metab. 2024 Jun;142(2):108486. doi: 10.1016/j.ymgme.2024.108486. Epub 2024 Apr 27. Mol Genet Metab. 2024. PMID: 38733639
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: wortmann sb. 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.
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessment.
Derks TGJ, Venema A, Köller C, Bos E, Overduin RJ, Stolwijk NN, Hofbauer P, Bolhuis MS, van Eenennaam F, Groen H, Hollak CEM, Wortmann SB. Derks TGJ, et al. Among authors: wortmann sb. J Inherit Metab Dis. 2024 Mar;47(2):244-254. doi: 10.1002/jimd.12714. Epub 2024 Jan 7. J Inherit Metab Dis. 2024. PMID: 38185897
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE; additional individual contributors. Wortmann SB, et al. J Inherit Metab Dis. 2017 May;40(3):423-431. doi: 10.1007/s10545-017-0015-9. Epub 2017 Feb 15. J Inherit Metab Dis. 2017. PMID: 28205048 Free PMC article.
Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to know.
Heath O, Feichtinger RG, Achleitner MT, Hofbauer P, Mayr D, Merkevicius K, Spenger J, Steinbrücker K, Steindl C, Tiefenthaler E, Mayr JA, Wortmann SB. Heath O, et al. Among authors: wortmann sb. Eur J Paediatr Neurol. 2024 Dec 15;54:75-88. doi: 10.1016/j.ejpn.2024.10.009. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 39793294 Free article. Review.
Ketogenic diet in adult patients with mitochondrial myopathy.
Zweers HEE, Kroesen SH, Beerlink G, Buit E, Gerrits K, Dorhout A, van Wegberg AMJ, Janssen MCH, Wortmann SB, Timmers S, Saris CGJ. Zweers HEE, et al. Among authors: wortmann sb. Mol Genet Metab. 2024 Dec;143(4):108610. doi: 10.1016/j.ymgme.2024.108610. Epub 2024 Nov 10. Mol Genet Metab. 2024. PMID: 39602868 Free article. Clinical Trial.
Vaccine safety in children with genetically confirmed mitochondrial disease.
de Vreugd A, Zimmermann FA, Steinbrücker K, de Vries MC, de Boer L, Janssen MC, Huemer M, Wortmann SB. de Vreugd A, et al. Among authors: wortmann sb. Immunol Lett. 2025 Feb;271:106946. doi: 10.1016/j.imlet.2024.106946. Epub 2024 Nov 17. Immunol Lett. 2025. PMID: 39557131
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel CF, Lerner-Ellis J, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann APA, van der Schoot V, Brunet T, Bußmann C, Mignot C, Zampino G, Wortmann SB, Mayr JA, Feichtinger RG, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: wortmann sb. Ann Neurol. 2024 Sep 20. doi: 10.1002/ana.27077. Online ahead of print. Ann Neurol. 2024. PMID: 39301775
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
Morales-Romero B, Muñoz-Pujol G, Artuch R, García-Cazorla A, O'Callaghan M, Sykut-Cegielska J, Campistol J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J, Tort F. Morales-Romero B, et al. Among authors: wortmann sb. Mol Genet Metab. 2024 Jul;142(3):108511. doi: 10.1016/j.ymgme.2024.108511. Epub 2024 Jun 6. Mol Genet Metab. 2024. PMID: 38878498
176 results