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Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1 Fettelschoss, Victoria; Burda, Patricie; Sagne, Corinne; Coelho, David; De Laet, Corinne; Lutz, Seraina; Suormala, Terttu; Fowler, Brian; Pietrancosta, Nicolas; Gasnier, Bruno; Bornhauser, Beat; Froese, D. Sean; Baumgartner, Matthias R. 分享 收藏
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type Front, Sophie; Biela-Banas, Anna; Burda, Patricie; Ballhausen, Diana; Higaki, Katsumi; Caciotti, Anna; Morrone, Amelia; Charollais-Thoenig, Julie; Gallienne, Estelle; Demotz, Stephane; Martin, Olivier R. 分享 收藏
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Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect Forny, Patrick; Schumann, Anke; Mustedanagic, Merima; Mathis, Deborah; Wulf, Marie-Angela; Nagele, Nadine; Langhans, Claus-Dieter; Zhakupova, Assem; Heeren, Joerg; Scheja, Ludger; Fingerhut, Ralph; Peters, Heidi L.; Hornemann, Thorsten; Thony, Beat; Koelker, Stefan; Burda, Patricie; Froese, D. Sean; Devuyst, Olivier; Baumgartner, Matthias R. 分享 收藏
Exome Sequencing and the Management of Neurometabolic Disorders Tarailo-Graovac, M.; Shyr, C.; Ross, C. J.; Horvath, G. A.; Salvarinova, R.; Ye, X. C.; Zhang, L-H; Bhavsar, A. P.; Lee, J. J. Y.; Droegemoeller, B. I.; Abdelsayed, M.; Alfadhel, M.; Armstrong, L.; Baumgartner, M. R.; Burda, P.; Connolly, M. B.; Cameron, J.; Demos, M.; Dewan, T.; Dionne, J.; Evans, A. M.; Friedman, J. M.; Garber, I.; Lewis, S.; Ling, J.; Mandal, R.; Mattman, A.; McKinnon, M.; Michoulas, A.; Metzger, D.; Ogunbayo, O. A.; Rakic, B.; Rozmus, J.; Ruben, P.; Sayson, B.; Santra, S.; Schultz, K. R.; Selby, K.; Shekel, P.; Sirrs, S.; Skrypnyk, C.; Superti-Furga, A.; Turvey, S. E.; Van Allen, M. I.; Wishart, D.; Wu, J.; Wu, J.; Zafeiriou, D.; Kluijtmans, L.; Wevers, R. A.; Eydoux, P.; Lehman, A. M.; Vallance, H.; Stockler-Ipsiroglu, S.; Sinclair, G.; Wasserman, W. W.; van Karnebeek, C. D. 分享 收藏
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency Froese, D. Sean; Huemer, Martina; Suormala, Terttu; Burda, Patricie; Coelho, David; Gueant, Jean-Louis; Landolt, Markus A.; Kozich, Viktor; Fowler, Brian; Baumgartner, Matthias R. 分享 收藏
Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients Burda, Patricie; Schaefer, Alexandra; Suormala, Terttu; Rummel, Till; Buerer, Celine; Heuberger, Dorothea; Frapolli, Michele; Giunta, Cecilia; Sokolova, Jitka; Vlaskova, Hana; Kozich, Viktor; Koch, Hans Georg; Fowler, Brian; Froese, D. Sean; Baumgartner, Matthias R. 分享 收藏
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells Palhais, Bruno; Praestegaard, Veronica S.; Sabaratnam, Rugivan; Doktor, Thomas Koed; Lutz, Seraina; Burda, Patricie; Suormala, Terttu; Baumgartner, Matthias; Fowler, Brian; Bruun, Gitte Hoffmann; Andersen, Henriette Skovgaard; Kozich, Viktor; Andresen, Brage Storstein 分享 收藏
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Multiple Phenotypes in Phosphoglucomutase 1 Deficiency 磷酸葡萄糖变现酶1缺乏症的多种表型 Tegtmeyer, L. C.; Rust, S.; van Scherpenzeel, M.; Ng, B. G.; Losfeld, M. -E.; Timal, S.; Raymond, K.; He, P.; Ichikawa, M.; Veltman, J.; Huijben, K.; Shin, Y. S.; Sharma, V.; Adamowicz, M.; Lammens, M.; Reunert, J.; Witten, A.; Schrapers, E.; Matthijs, G.; Jaeken, J.; Rymen, D.; Stojkovic, T.; Laforet, P.; Petit, F.; Aumaitre, O.; Czarnowska, E.; Piraud, M.; Podskarbi, T.; Stanley, C. A.; Matalon, R.; Burda, P.; Seyyedi, S.; Debus, V.; Socha, P.; Sykut-Cegielska, J.; van Spronsen, F.; de Meirleir, L.; Vajro, P.; DeClue, T.; Ficicioglu, C.; Wada, Y.; Wevers, R. A.; Vanderschaeghe, D.; Callewaert, N.; Fingerhut, R.; van Schaftingen, E.; Freeze, H. H.; Morava, E.; Lefeber, D. J.; Marquardt, T. 分享 收藏
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism Coelho, David; Kim, Jaeseung C.; Miousse, Isabelle R.; Fung, Stephen; du Moulin, Marcel; Buers, Insa; Suormala, Terttu; Burda, Patricie; Frapolli, Michele; Stucki, Martin; Nuernberg, Peter; Thiele, Holger; Robenek, Horst; Hoehne, Wolfgang; Longo, Nicola; Pasquali, Marzia; Mengel, Eugen; Watkins, David; Shoubridge, Eric A.; Majewski, Jacek; Rosenblatt, David S.; Fowler, Brian; Rutsch, Frank; Baumgartner, Matthias R. 分享 收藏
3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals 3-甲基巴豆酰辅酶a羧化酶缺乏症: 88个人的临床，生化，酶和分子研究 Gruenert, Sarah C.; Stucki, Martin; Morscher, Raphael J.; Suormala, Terttu; Buerer, Celine; Burda, Patricie; Christensen, Ernst; Ficicioglu, Can; Herwig, Juergen; Koelker, Stefan; Moeslinger, Dorothea; Pasquini, Elisabetta; Santer, Rene; Schwab, K. Otfried; Wilcken, Bridget; Fowler, Brian; Yue, Wyatt W.; Baumgartner, Matthias R. 分享 收藏
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Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic Imbach, T; Grünewald, S; Schenk, B; Burda, P; Schollen, E; Wevers, RA; Jaeken, J; de Klerk, JBC; Berger, EG; Matthijs, G; Aebi, M; Hennet, T 分享 收藏
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie Imbach, T; Schenk, B; Schollen, E; Burda, P; Stutz, A; Grünewald, S; Bailie, NM; King, MD; Jaeken, J; Matthijs, G; Berger, EG; Aebi, M; Hennet, T 分享 收藏
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