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Christen, Matthias; Oevermann, Anna; Rupp, Stefan; Vaz, Frédéric M; Wever, Eric J M; Braus, Barbara K; Jagannathan, Vidhya; Kehl, Alexandra; Hytönen, Marjo K; Lohi, Hannes; Leeb, Tosso (2024). PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration. Molecular genetics and metabolism, 141(3), p. 108149. Elsevier 10.1016/j.ymgme.2024.108149
Nowak, Albina; Dormond, Olivier; Monzambani, Véronique; Huynh-Do, Uyen; Barbey, Frédéric (2022). Agalsidase-β should be proposed as first line therapy in classic male Fabry patients with undetectable α-galactosidase A activity. Molecular genetics and metabolism, 137(1-2), pp. 173-178. Elsevier 10.1016/j.ymgme.2022.08.003
Bertani, Valeria; Prioni, Simona; Di Lecce, Rosanna; Gazza, Ferdinando; Ragionieri, Luisa; Merialdi, Giuseppe; Bonilauri, Paolo; Jagannathan, Vidhya; Grassi, Sara; Cabitta, Livia; Paoli, Antonella; Morrone, Amelia; Sonnino, Sandro; Drögemüller, Cord; Cantoni, Anna Maria (2021). A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease. Molecular genetics and metabolism, 133(3), pp. 297-306. Elsevier 10.1016/j.ymgme.2021.05.001
Schmutz, Isabelle; Jagannathan, Vidya; Bartenschlager, Florian; Stein, Veronika M.; Gruber, Achim D; Leeb, Tosso; Katz, Martin L (2019). ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. Molecular genetics and metabolism, 127(1), pp. 95-106. Elsevier 10.1016/j.ymgme.2018.11.015
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
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
Hirz, M; Drögemüller, Michaela; Schänzer, A; Jagannathan, Vidhya; Dietschi, Elisabeth; Goebel, H H; Hecht, W; Laubner, S; Schmidt, M J; Steffen, F; Hilbe, M; Köhler, K; Drögemüller, Cord; Herden, C (2017). Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog. Molecular genetics and metabolism, 120(3), pp. 269-277. Elsevier 10.1016/j.ymgme.2016.12.007
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
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
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
Scheel, Michael; Abegg, Mathias; Lanyon, Linda J; Mattman, Andre; Barton, Jason J (2010). Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann-Pick Type C patient. Molecular genetics and metabolism, 99(3), pp. 291-295. Amsterdam: Elsevier 10.1016/j.ymgme.2009.10.180
Blau, Nenad; Bélanger-Quintana, Amaya; Demirkol, Mübeccel; Feillet, François; Giovannini, Marcello; MacDonald, Anita; Trefz, Friedrich K; van Spronsen, Francjan; Nuoffer, JM; European PKU centers, (2010). Management of phenylketonuria in Europe: survey results from 19 countries. Molecular genetics and metabolism, 99(2), pp. 109-15. Amsterdam: Elsevier 10.1016/j.ymgme.2009.09.005
Engel, Katharina; Nuoffer, Jean-Marc; Mühlhausen, Chris; Klaus, Vera; Largiadèr, Carlo R; Tsiakas, Konstantinos; Santer, René; Wermuth, Bendicht; Häberle, Johannes (2008). Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency. Molecular genetics and metabolism, 94(3), pp. 292-7. Amsterdam: Elsevier 10.1016/j.ymgme.2008.03.009
