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Year Number of Results
1950 2
1951 2
1973 4
1974 1
1976 2
1978 1
1987 1
1999 1
2001 1
2002 2
2003 1
2005 2
2007 2
2008 2
2009 1
2010 2
2011 2
2012 3
2013 4
2014 6
2015 7
2016 3
2017 5
2018 1
2019 4
2020 4
2021 8
2022 4
2023 3
2024 7
2025 11

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88 results

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Page 1
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). Welling L, et al. Among authors: gautschi m. J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. J Inherit Metab Dis. 2017. PMID: 27858262 Free PMC article.
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.
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg S, Harmatz P, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Andreasen AK, Geist MA, Havnsøe Torp Petersen N, Ingemann L, Hansen T, Blaettler T, Kirkegaard T, Í Dali C. Mengel E, et al. Among authors: gautschi m. J Inherit Metab Dis. 2021 Nov;44(6):1463-1480. doi: 10.1002/jimd.12428. Epub 2021 Sep 7. J Inherit Metab Dis. 2021. PMID: 34418116 Free PMC article. Clinical Trial.
Nascent-polypeptide-associated complex.
Rospert S, Dubaquié Y, Gautschi M. Rospert S, et al. Among authors: gautschi m. Cell Mol Life Sci. 2002 Oct;59(10):1632-9. doi: 10.1007/pl00012490. Cell Mol Life Sci. 2002. PMID: 12475173 Free PMC article. Review.
Epidemiology of mucopolysaccharidoses.
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S. Khan SA, et al. Among authors: gautschi m. Mol Genet Metab. 2017 Jul;121(3):227-240. doi: 10.1016/j.ymgme.2017.05.016. Epub 2017 May 26. Mol Genet Metab. 2017. PMID: 28595941 Free PMC article.
Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.
Patterson MC, Ramaswami U, Donald A, Foltan T, Gautschi M, Gissen P, Hahn A, Jones SA, Kay R, Kolniková M, Park J, Reichmannová S, Walterfang M, Wibawa P, Rohrbach M, Martakis K, Bremova-Ertl T. Patterson MC, et al. Among authors: gautschi m. Neurology. 2025 Jul;105(1):e213589. doi: 10.1212/WNL.0000000000213589. Epub 2025 Jun 13. Neurology. 2025. PMID: 40513057 Free PMC article. Clinical Trial.
Basilar artery stroke in childhood.
Goeggel Simonetti B, Ritter B, Gautschi M, Wehrli E, Boltshauser E, Schmitt-Mechelke T, Weber P, Weissert M, El-Koussy M, Steinlin M. Goeggel Simonetti B, et al. Among authors: gautschi m. Dev Med Child Neurol. 2013 Jan;55(1):65-70. doi: 10.1111/dmcn.12015. Epub 2012 Nov 20. Dev Med Child Neurol. 2013. PMID: 23163838 Free article.
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
Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial.
Mengel E, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg SW, Harmatz P, Hennermann JB, Héron B, Maier EM, Santra S, Sharma R, Tylki-Szymanska A, Cording M, Himmelstrup L, Guenther S, Dali CÍ. Mengel E, et al. Among authors: gautschi m. Mol Genet Metab. 2025 Aug;145(4):109189. doi: 10.1016/j.ymgme.2025.109189. Epub 2025 Jul 7. Mol Genet Metab. 2025. PMID: 40663813 Free article. Clinical Trial.
88 results