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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: gautschi m. 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
Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
Mengel E, Bembi B, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg S, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Symonds T, Hudgens S, Patterson MC, Guldberg C, Ingemann L, Petersen NHT, Kirkegaard T, Dali CÍ. Mengel E, et al. Among authors: gautschi m. Orphanet J Rare Dis. 2021 Jun 1;16(1):246. doi: 10.1186/s13023-021-01855-9. Orphanet J Rare Dis. 2021. PMID: 34074315 Free PMC article. No abstract available.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium; Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J. Huemer M, et al. Among authors: gautschi m. J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17. J Inherit Metab Dis. 2019. PMID: 30773687
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ, Jager EA, Allersma DP, Aktuğlu Zeybek AÇ, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Bürgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ. van Rijt WJ, et al. Among authors: gautschi m. Genet Med. 2020 May;22(5):908-916. doi: 10.1038/s41436-019-0739-z. Epub 2020 Jan 6. Genet Med. 2020. PMID: 31904027 Free PMC article.
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism.
Bösch F, Landolt MA, Baumgartner MR, Fernandez S, Forny P, Gautschi M, Grünert SC, Häberle J, Horvath C, Karall D, Lampis D, Rohrbach M, Scholl-Bürgi S, Szinnai G, Huemer M. Bösch F, et al. Among authors: gautschi m. Mol Genet Metab Rep. 2022 May 6;31:100876. doi: 10.1016/j.ymgmr.2022.100876. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35762020 Free PMC article.
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.
Mütze U, Gleich F, Barić I, Baumgartner M, Burlina A, Chapman KA, Chien YH, Cortès-Saladelafont E, De Laet C, Dobbelaere D, Eysken F, Gautschi M, Santer R, Häberle J, Joaquín C, Karall D, Lindner M, Lund AM, Mühlhausen C, Murphy E, Roland D, Ruiz Gomez A, Skouma A, Grünert SC, Wagenmakers M, Garbade SF, Kölker S, Boy N. Mütze U, et al. Among authors: gautschi m. J Inherit Metab Dis. 2023 Mar;46(2):220-231. doi: 10.1002/jimd.12572. Epub 2022 Nov 14. J Inherit Metab Dis. 2023. PMID: 36266255 Free PMC article.
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Among authors: gautschi m. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.
77 results