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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 Apr 27;142(2):108486. doi: 10.1016/j.ymgme.2024.108486. Online ahead of print. Mol Genet Metab. 2024. PMID: 38733639
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.
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Bremova-Ertl T, et al. Among authors: gautschi m. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151. N Engl J Med. 2024. PMID: 38294974 Clinical Trial.
Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.
Grassi M, Laubscher B, Pandey AV, Tschumi S, Graber F, Schaller A, Janner M, Aeberli D, Hewer E, Nuoffer JM, Gautschi M. Grassi M, et al. Among authors: gautschi m. Mol Syndromol. 2023 Aug;14(4):347-361. doi: 10.1159/000529306. Epub 2023 Apr 12. Mol Syndromol. 2023. PMID: 37766831 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.
Galactose epimerase deficiency: lessons from the GalNet registry.
Derks B, Demirbas D, Arantes RR, Banford S, Burlina AB, Cabrera A, Chiesa A, Couce ML, Dionisi-Vici C, Gautschi M, Grünewald S, Morava E, Möslinger D, Scholl-Bürgi S, Skouma A, Stepien KM, Timson DJ, Berry GT, Rubio-Gozalbo ME. Derks B, et al. Among authors: gautschi m. Orphanet J Rare Dis. 2022 Sep 2;17(1):331. doi: 10.1186/s13023-022-02494-4. Orphanet J Rare Dis. 2022. PMID: 36056436 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.
74 results