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Breuss, Alexander; Strasser, Marco; Nuoffer, Jean-Marc; Klein, Andrea; Perret-Hoigné, Eveline; Felder, Christine; Stauffer, Ruth; Wolf, Peter; Riener, Robert; Gautschi, Matthias (2024). Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease. (In Press). Journal of sleep research, e14153. Wiley 10.1111/jsr.14153
Koch, Jasmine; Broeks, Melissa H; Gautschi, Matthias; Jans, Judith; Lämmle, Alexander (2024). Inborn errors of the malate aspartate shuttle - Update on patients and cellular models. Molecular genetics and metabolism, 142(4), p. 108520. Elsevier 10.1016/j.ymgme.2024.108520
Grünert, Sarah C; Gautschi, Matthias; Baker, Joshua; Boyer, Monica; Burlina, Alberto; Casswall, Thomas; Corpeleijn, Willemijn; Çıki, Kismet; Cotter, Melanie; Crushell, Ellen; Derks, Terry G J; Haas, Dorothea; Kilavuz, Sebile; Kingma, Sandra D K; Korman, Stanley H; Kozek, Anne; de Laet, Corinne; Mundy, Helen; Nassogne, Marie Cecile; Quintero, Victor; ... (2024). Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b. Molecular genetics and metabolism, 142(2), p. 108486. Elsevier 10.1016/j.ymgme.2024.108486
Bremova-Ertl, Tatiana; Ramaswami, Uma; Brands, Marion; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Gowing, Francesca; Hahn, Andreas; Jones, Simon; Kay, Richard; Kolnikova, Miriam; Arash-Kaps, Laila; Marquardt, Thorsten; Mengel, Eugen; Park, Julien H; Reichmannová, Stella; Schneider, Susanne A; Sivananthan, Siyamini; Walterfang, Mark; Wibawa, Pierre; ... (2024). Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C. The New England journal of medicine, 390(5), pp. 421-431. Massachusetts Medical Society 10.1056/NEJMoa2310151
Panis, Bianca; Vos, E Naomi; Barić, Ivo; Bosch, Annet M; Brouwers, Martijn C G J; Burlina, Alberto; Cassiman, David; Coman, David J; Couce, María L; Das, Anibh M; Demirbas, Didem; Empain, Aurélie; Gautschi, Matthias; Grafakou, Olga; Grunewald, Stephanie; Kingma, Sandra D K; Knerr, Ina; Leão-Teles, Elisa; Möslinger, Dorothea; Murphy, Elaine; ... (2024). Brain function in classic galactosemia, a galactosemia network (GalNet) members review. Frontiers in genetics, 15(1355962) Frontiers Media SA 10.3389/fgene.2024.1355962
Bremova-Ertl, Tatiana; Hofmann, Jan; Stucki, Janine; Vossenkaul, Anja; Gautschi, Matthias (2023). Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options. Cells, 12(18) MDPI 10.3390/cells12182314
Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306
Mütze, U; Gleich, F; Barić, I; Baumgartner, M; Burlina, A; Chapman, K A; Chien, Y; Cortès-Saladelafont, E; De Laet, C; Dobbelaere, D; Eysken, F; Gautschi, M; Santer, R; Häberle, J; Joaquín, C; Karall, D; Lindner, M; Lund, A M; Mühlhausen, C; Murphy, E; ... (2023). Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases - data from the E-IMD consortium. Journal of inherited metabolic disease, 46(2), pp. 220-231. Wiley 10.1002/jimd.12572
Derks, Britt; Demirbas, Didem; Arantes, Rodrigo R; Banford, Samantha; Burlina, Alberto B; Cabrera, Analía; Chiesa, Ana; Couce, M Luz; Dionisi-Vici, Carlo; Gautschi, Matthias; Grünewald, Stephanie; Morava, Eva; Möslinger, Dorothea; Scholl-Bürgi, Sabine; Skouma, Anastasia; Stepien, Karolina M; Timson, David J; Berry, Gerard T; Rubio-Gozalbo, M Estela (2022). Galactose epimerase deficiency: lessons from the GalNet registry. Orphanet journal of rare diseases, 17(1), p. 331. BioMed Central 10.1186/s13023-022-02494-4
Sanchez-Albisua, Iciar; Umlauf, Volker; Kidszun, André; Gautschi, Matthias (2022). Was ist bei neonatalen Anfällen zu tun? Leading opinions - Neurologie & Psychiatrie, 6, pp. 20-24. Universimed
Bösch, Florin; Landolt, Markus A; Baumgartner, Matthias R; Fernandez, Susana; Forny, Patrick; Gautschi, Matthias; Grünert, Sarah C; Häberle, Johannes; Horvath, Carolina; Karall, Daniela; Lampis, Danila; Rohrbach, Marianne; Scholl-Bürgi, Sabine; Szinnai, Gabor; Huemer, Martina (2022). Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism. Molecular genetics and metabolism reports, 31, p. 100876. Elsevier 10.1016/j.ymgmr.2022.100876
Mathis, Tamara; Poms, Martin; Köfeler, Harald; Gautschi, Matthias; Plecko, Barbara; Baumgartner, Matthias R; Hochuli, Michel (2022). Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I. Journal of inherited metabolic disease, 45(2), pp. 235-247. Wiley 10.1002/jimd.12451
Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814
Mengel, Eugen; Patterson, Marc C; Da Riol, Rosalia M; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Grønborg, Sabine; Harmatz, Paul; Héron, Bénédicte; Maier, Esther M; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Andreasen, Anne Katrine; Geist, Marie Aavang; Havnsøe Torp Petersen, Nikolaj; Ingemann, Linda; Hansen, Thomas; ... (2021). 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. Journal of inherited metabolic disease, 44(6), pp. 1463-1480. Wiley 10.1002/jimd.12428
Yogarajah, J.; Gouveia, C.; Iype, J.; Häfliger, Stefanie; Schaller, A.; Nuoffer, J. M.; Fux, M.; Gautschi, M. (2021). Efficacy and safety of secukinumab for the treatment of severe ABCA12 deficiency‐related ichthyosis in a child. Skin health and disease, 1(2), e25. Wiley 10.1002/ski2.25
Rubio-Gozalbo, M Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Möslinger, Dorothea; Couce, M Luz; Empain, Aurélie; Ficicioglu, Can; Juliá Palacios, Natalia; De Los Santos De Pelegrin, Mariela M; Rivera, Isabel A; Scholl-Bürgi, Sabine; Bosch, Annet M; Cassiman, David; Demirbas, Didem; Gautschi, Matthias; Knerr, Ina; Labrune, Philippe; Skouma, Anastasia; Verloo, Patrick; ... (2021). Galactokinase deficiency: lessons from the GalNet registry. Genetics in medicine, 23(1), pp. 202-210. Springer Nature 10.1038/s41436-020-00942-9
Treacy, Eileen P.; Vencken, Sebastian; Bosch, Annet M.; Gautschi, Matthias; Rubio‐Gozalbo, Estela; Dawson, Charlotte; Nerney, Darragh; Colhoun, Hugh Owen; Shakerdi, Loai; Pastores, Gregory M.; O'Flaherty, Roisin; Saldova, Radka (2021). Abnormal N ‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake. JIMD reports, 61(1), pp. 76-88. Wiley 10.1002/jmd2.12237
Mengel, Eugen; Bembi, Bruno; del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Grønborg, Sabine; Héron, Bénédicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C.; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H. T.; Kirkegaard, Thomas; ... (2021). Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study. Orphanet journal of rare diseases, 16(1), p. 246. BioMed Central 10.1186/s13023-021-01855-9
Mengel, Eugen; Bembi, Bruno; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Grønborg, Sabine; Héron, Bénédicte; Maier, Esther M; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H T; Kirkegaard, Thomas; ... (2020). Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study. Orphanet journal of rare diseases, 15(1), p. 328. BioMed Central 10.1186/s13023-020-01616-0
van Rijt, Willemijn J; Jager, Emmalie A; Allersma, Derk P; Aktuğlu Zeybek, A Çiğdem; Bhattacharya, Kaustuv; Debray, François-Guillaume; Ellaway, Carolyn J; Gautschi, Matthias; Geraghty, Michael T; Gil-Ortega, David; Larson, Austin A; Moore, Francesca; Morava, Eva; Morris, Andrew A; Oishi, Kimihiko; Schiff, Manuel; Scholl-Bürgi, Sabine; Tchan, Michel C; Vockley, Jerry; Witters, Peter; ... (2020). Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Genetics in medicine, 22(5), pp. 908-916. Springer Nature 10.1038/s41436-019-0739-z
Rubio-Gozalbo, M E; Haskovic, M; Bosch, A M; Burnyte, B; Coelho, A I; Cassiman, D; Couce, M L; Dawson, C; Demirbas, D; Derks, T; Eyskens, F; Forga, M T; Grunewald, S; Häberle, J; Hochuli, M; Hubert, A; Huidekoper, H H; Janeiro, P; Kotzka, J; Knerr, I; ... (2019). The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet journal of rare diseases, 14(1), p. 86. BioMed Central 10.1186/s13023-019-1047-z
Kaiser, Nathalie; Gautschi, Matthias; Bosanska, Lenka; Meienberg, Fabian; Baumgartner, Matthias R; Spinas, Giatgen A; Hochuli, Michel (2019). Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry. Molecular genetics and metabolism, 126(4), pp. 355-361. Elsevier 10.1016/j.ymgme.2019.02.008
Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kožich, Viktor; Morris, Andrew A; Seifert, Burkhardt; Froese, D Sean; Baumgartner, Matthias R; Dionisi-Vici, Carlo; Martin, Carlos Alcalde; Baethmann, Martina; Ballhausen, Diana; Blasco-Alonso, Javier; Boy, Nikolas; Bueno, Maria; Burgos Peláez, Rosa; ... (2019). Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry. Journal of inherited metabolic diseases, 42(2), pp. 333-352. Wiley 10.1002/jimd.12041
Korner, Mirjam; Kälin, Sonja; Zweifel-Zehnder, Antoinette; Fankhauser, Niklaus; Nuoffer, Jean-Marc; Gautschi, Matthias (2019). Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia. Orphanet journal of rare diseases, 14(1), p. 56. BioMed Central 10.1186/s13023-019-0999-3
Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kožich, Viktor; Morris, Andrew A.; Seifert, Burkhardt; Froese, D. Sean; Baumgartner, Matthias R.; Dionisi-Vici, Carlo; Alcalde Martin, C.; Baethmann, M.; Ballhausen, D.; Blasco-Alonso, J.; Boy, N.; Bueno, M.; Burgos Peláez, R.; ... (2018). Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry (In Press). Journal of inherited metabolic disease Springer 10.1007/s10545-018-0238-4
Hornemann, Thorsten; Alecu, Irina; Hagenbuch, Niels; Zhakupova, Assem; Cremonesi, Alessio; Gautschi, Matthias; Jung, Hans H.; Meienberg, Fabian; Bilz, Stefan; Christ, Emanuel; Baumgartner, Matthias R.; Hochuli, Michel (2018). Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I – A link to metabolic control. Molecular genetics and metabolism, 125(1-2), pp. 73-78. Elsevier 10.1016/j.ymgme.2018.07.003
Khan, Shaukat A; Peracha, Hira; Ballhausen, Diana; Wiesbauer, Alfred; Rohrbach, Marianne; Gautschi, Matthias; Mason, Robert W; Giugliani, Roberto; Suzuki, Yasuyuki; Orii, Kenji E; Orii, Tadao; Tomatsu, Shunji (2017). Epidemiology of mucopolysaccharidoses. Molecular genetics and metabolism, 121(3), pp. 227-240. Elsevier 10.1016/j.ymgme.2017.05.016
van Erven, Britt; Berry, Gerard T; Cassiman, David; Connolly, Geraldine; Forga, Maria; Gautschi, Matthias; Gubbels, Cynthia S; Hollak, Carla E M; Janssen, Mirian C; Knerr, Ina; Labrune, Philippe; Langendonk, Janneke G; Õunap, Katrin; Thijs, Abel; Vos, Rein; Wortmann, Saskia B; Rubio-Gozalbo, M Estela (2017). Fertility in adult women with classic galactosemia and primary ovarian insufficiency. Fertility and sterility, 108(1), pp. 168-174. Elsevier 10.1016/j.fertnstert.2017.05.013
Welling, Lindsey; Bernstein, Laurie E; Berry, Gerard T; Burlina, Alberto B; Eyskens, François; Gautschi, Matthias; Grünewald, Stephanie; Gubbels, Cynthia S; Knerr, Ina; Labrune, Philippe; van der Lee, Johanna H; MacDonald, Anita; Murphy, Elaine; Portnoi, Pat A; Õunap, Katrin; Potter, Nancy L; Rubio-Gozalbo, M Estela; Spencer, Jessica B; Timmers, Inge; Treacy, Eileen P; ... (2017). International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. Journal of inherited metabolic disease, 40(2), pp. 171-176. Springer 10.1007/s10545-016-9990-5
Welling, Lindsey; Waisbren, Susan E; Antshel, Kevin M; Colhoun, Hugh-Owen; Gautschi, Matthias; Grünewald, Stephanie; Holman, Rebecca; van der Lee, Johanna H; Treacy, Eileen P; Bosch, Annet M (2017). Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia. JIMD reports, 37, pp. 115-123. Springer 10.1007/8904_2017_22
Laemmle, Alexander; Gallagher, Renata C; Keogh, Adrian; Stricker, Tamar; Gautschi, Matthias; Nuoffer, Jean-Marc; Baumgartner, Matthias R; Häberle, Johannes (2016). Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD). PLoS ONE, 11(4), e0153358. Public Library of Science 10.1371/journal.pone.0153358
Arrizza, Chiara; De Gottardi, Andrea; Foglia, Ezio; Baumgartner, Matthias; Gautschi, Matthias; Nuoffer, Jean-Marc (2015). Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up. Transplant international, 28(12), pp. 1447-1450. Wiley-Blackwell 10.1111/tri.12677
Cioccari, Luca; Gautschi, Matthias; Etter, Reto; Weck, Anja; Takala, Jukka (2015). Further Concerns About Glutamine: A Case Report on Hyperammonemic Encephalopathy. Critical care medicine, 43(10), e458-e460. Lippincott Williams & Wilkins 10.1097/CCM.0000000000001151
Klinke, Glynis; Rohrbach, Marianne; Giugliani, Roberto; Burda, Patricie; Baumgartner, Matthias R; Tran, Christel; Gautschi, Matthias; Mathis, Déborah; Hersberger, Martin (2015). LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases. Clinical biochemistry, 48(9), pp. 596-602. Elsevier 10.1016/j.clinbiochem.2015.03.007
Lämmle, Alexander; Hahn, Dagmar Karen; Hu, Liyan; Rüfenacht, Véronique; Gautschi, Matthias; Leibundgut, Kurt; Nuoffer, Jean-Marc; Häberle, Johannes (2015). Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation. Molecular genetics and metabolism, 114(3), pp. 438-444. Elsevier 10.1016/j.ymgme.2015.01.002
Gautschi, Matthias; Weisstanner, Christian; Slotboom, Johannes; Nava, Esmeralda; Zürcher, Theres; Nuoffer, Jean-Marc (2015). Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy. Pediatric research, 77(1), pp. 91-98. Nature Publishing Group 10.1038/pr.2014.154
Mayorandan, Sebene; Meyer, Uta; Gokcay, Gülden; Segarra, Nuria; de Baulny, Hélène; van Spronsen, Francjan; Zeman, Jiri; de Laet, Corinne; Spiekerkoetter, Ute; Thimm, Eva; Maiorana, Arianna; Dionisi-Vici, Carlo; Moeslinger, Dorothea; Brunner-Krainz, Michaela; Lotz-Havla, Amelie; Cocho de Juan, José; Couce Pico, Maria; Santer, René; Scholl-Bürgi, Sabine; Mandel, Hanna; ... (2014). Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet journal of rare diseases, 9(1), p. 107. BioMed Central 10.1186/s13023-014-0107-7
Gautschi, Matthias; Merlini, Laura; Calza, Anne-Marie; Hayflick, Susan; Nuoffer, Jean-Marc; Fluss, Joel (2014). Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin. European journal of paediatric neurology, 18(4), pp. 516-519. Elsevier 10.1016/j.ejpn.2014.02.005
Gautschi, Matthias; Eggimann, Sandra; Nuoffer, Jean-Marc (2014). Current role of enzyme analysis for urea cycle disorders. Journal of Pediatric Biochemistry, 4(1), pp. 23-32. IOS Press 10.3233/JPB-140103
Pers, Sabrina; Gautschi, Matthias; Nuoffer, Jean-Marc; Schwarz, Hans Peter; Christ, Emanuel (2014). Integration of adult patients with phenylketonuria into professional life: long-term follow-up of 27 patients in a single centre in Switzerland. Swiss medical weekly, 144, w14074. EMH Schweizerischer Ärzteverlag 10.4414/smw.2014.14074
Jackson, Christopher; Nuoffer, Jean-Marc; Hahn, Dagmar Karen; Prokisch, Holger; Haberberger, Birgit; Gautschi, Matthias; Haeberli, Annemarie; Gallati, Sabina; Schaller, André (2013). Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. Journal of medical genetics, 51(3), pp. 170-175. BMJ Publishing Group 10.1136/jmedgenet-2013-101932
Jones, Simon A.; Parini, Rossella; Harmatz, Paul; Giugliani, Roberto; Fang, Juanzhi; Mendelsohn, Nancy J.; on behalf of the HOS Investigators, The HOS Natural History Working Group; Gautschi, Matthias (2013). The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS). Molecular genetics and metabolism, 109(1), pp. 41-48. Elsevier 10.1016/j.ymgme.2013.03.001
Goeggel, Barbara; Ritter, Barbara; Gautschi, Matthias; Wehrli, Edith; Boltshauser, Eugen; Schmitt-Mechelke, Thomas; Weber, Peter; Weissert, Markus; El-Koussy, Marwan; Steinlin, Maja (2013). Basilar artery stroke in childhood. Developmental medicine and child neurology, 55(1), pp. 65-70. Oxford: Blackwell 10.1111/dmcn.12015
Rüegger, Corinne M; Lindner, Martin; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Das, Anibh; Gautschi, Matthias; Glahn, Esther M; Grünert, Sarah C; Hennermann, Julia; Hochuli, Michel; Huemer, Martina; Karall, Daniela; Kölker, Stefan; Lachmann, Robin H; Lotz-Havla, Amelie; Möslinger, Dorothea; Nuoffer, Jean-Marc; Plecko, Barbara; Rutsch, Frank; ... (2013). Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. Journal of inherited metabolic disease, 37(1), pp. 21-30. Lancaster, UK: Springer 10.1007/s10545-013-9624-0
