Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: An observational cohort study

Autor: Patterson, M. C, Mengel, E, Vanier, M. T, Schwierin, B, Muller, A, Cornelisse, P, Pineda, M, Amado-Fondo, A, Amraoui, Y, Andria, G, Arellano, M, Audoin, B, Azcona, C, Barr, C, Baruteau, J, Baumgartner, C, Bell, L, Bembi, B, Benneddif, K, Bernard, G, Bobocea, N, Bodzioch, M, Boettcher, T, Bonnan, M, Broue, P, Bruni, A, Caceres, M, Camino, R, Campbell, E, Cances, C, Cannell, P, Cesar, J, Chabrol, B, Chakrapani, A, Colao, R, Collet, A, Corsetti, T, Cousins, A, Covanis, A, Cox, T, Cuisset, J. M, Dardis, A, Das, A, Deegan, P, Dengler, T, Deodato, F, Derralynn, H, Di Donato, I, Di Rocco, M, Dinopoulos, A, Pakiela, D, Eckehard, S, Engelen, M, Eyer, D, Fecarotta, S, Federico, A, Filla, A, Fiumara, A, Fonseca, M. J, Gabrielli, O, Garcia, T, Garrote, J, Gissen, P, Giugliani, L, Greenberg, C, Heron, B, Hertzberg, C, Higgins, F, Hill, A, Hiwot, T, Hlavata, A, Hörbe-Blindt, A, Howley, E, Hussain, N, Illsinger, S, Imrie, J, Jacklin, E, Jones, S, Jovanovic, A, Kaczmarek, V, Kaphan, E, Kibaek, M, Kleinhans, P, Klünemann, Kh, Koch, S. M, Koegl-Wallner, W, Kolnikova, M, Korenke, G. C, Korinthenberg, R, Kumari, S, Lachmann, R, Lee Ann, L, Likopoulou, L, Lilienthal, E, Link, B, Lippold, M, Lopez-Laso, E, Luecke, T, Lundgren, J, Mackrell, M, Madruga, M, Maletta, R, Malinova, V, Manners, J, Marinei, R, Marquardt, T, Martins, E, Martins, A. M, Martins, N, Mcalister, L, Mccabe, A, Mckie, M, Mcmahon, S, Meehan, M, Meldgaard Lund, A, Mendozah, C, Meyer, A, Mielke, S, Milligan, A, Mir, P, Moisa, M, Mombelli, C, Morris, L, Müller Vom Hagen, J, Munoz, B, Murphy, E, Nagarajan, L, Neto, P. B, Nevsimalova, S, Nia, S, Nicolai, J, Niemann, D, Niktari, G, O'Callaghan, M. D. M, Paucar-Arce, M, Peers, K, Peintinger, L, Peralta, M, Pérez, J, Perez-Poyato, M, Petrariu, A, Puschmann, A, Raiman, J, Rask, O, Rataj, J, Raymond-Gaynor, C, Reichelt, G, Ribeiro, E, Riches, V, Roberts, A, Roelants, J, Rohrbach, M, Rokicki, D, Rolfs, A, Russo, C, Rutsch, F, Saleem, R, Santos, M, Schmutz, P, Schwahn, B, Sedel, F, Semotok, J, Sharma, R, Silska, S, Silva, A, Simmons, L, Sivera, R, Skorpen, J, Sole, G, Souza, C, Stadlober-Degwerth, M, Starling, J, Temudo, T, Tomas, M, Tranchant, C, Uziel, G, Valayannopoulous, V, Van Den Hout, H, Van Der Tol, L, Van Spronsen, F, Vellodi, A, Verdu, A, Vilchez, J. J, Vinaixa, A, Visser, G, Voelker, J, Waldek, S, Walter, A, Walterfang, M, Wein, U, Widner, H, Wilcke, C, Wildish, L, Wraith, E, Wright, N, Xaidara, A, Yamamoto, M, Zallocco, F, Zielke, S

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 10(1):65. BioMed Central

BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological disease progression varies depending on age at neurological onset. We report longitu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cd7081ec1efa0869586839008ff46d7
http://hdl.handle.net/11588/636258

Evaluation of global and regional myocardial work by echocardiography in patients with Fabry disease.

Autor: Wang, Han^1,2 (AUTHOR), Yang, Ying^1,2 (AUTHOR), Liu, Lin^1,2 (AUTHOR), Zhao, Yawen³ (AUTHOR), Li, Yang⁴ (AUTHOR), Zhang, Wei³ (AUTHOR), Ma, Wei^1,2 (AUTHOR) kmmawei@sina.com

Publikováno v: Orphanet Journal of Rare Diseases. 10/16/2024, Vol. 19 Issue 1, p1-9. 9p.

Prevalence of Fabry Disease in Patients on Dialysis in France.

Autor: Sens, Florence^1,2 (AUTHOR) florence.sens@chu-lyon.fr, Guittard, Laure^3,4 (AUTHOR) laure.guittard@chu-lyon.fr, Knebelmann, Bertrand⁵ (AUTHOR) bertrand.knebelmann@aphp.fr, Moranne, Olivier⁶ (AUTHOR) olivier.moranne@chu-nimes.fr, Choukroun, Gabriel⁷ (AUTHOR) choukroun.gabriel@chu-amiens.fr, de Précigout, Valérie⁸ (AUTHOR) valerie.deprecigout@chu-bordeaux.fr, Couchoud, Cécile⁹ (AUTHOR) cecile.couchoud@biomedecine.fr, Deleruyelle, Isabelle³ (AUTHOR) isabelle.deleruyelle@chu-lyon.fr, Lancelot, Léa³ (AUTHOR) lea.lancelot@chu-lyon.fr, Tran Thi Phuong, Liên¹⁰ (AUTHOR) phuonglienvn282@gmail.com, Ghafari, Thomas¹¹ (AUTHOR) thomas.ghafari@aphp.fr, Juillard, Laurent^1,2 (AUTHOR) laurent.juillard@univ-lyon1.fr, Germain, Dominique P.^10,11,12 (AUTHOR) dominique.germain@uvsq.fr

Publikováno v: International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 18, p10104. 15p.

Inflammation, Oxidative Stress, and Endothelial Dysfunction in the Pathogenesis of Vascular Damage: Unraveling Novel Cardiovascular Risk Factors in Fabry Disease.

Autor: Faro, Denise Cristiana¹ (AUTHOR) denisefaro88@gmail.com, Di Pino, Francesco Lorenzo¹ (AUTHOR), Monte, Ines Paola¹ (AUTHOR) ines.monte@unict.it

Publikováno v: International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 15, p8273. 29p.

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.

Autor: Van der Tol, L., Smid, B. E., Poorthuis, B. J. H. M., Biegstraaten, M., Lekanne Deprez, R. H., Linthorst, G. E., Hollak, C. E. M.

Publikováno v: Journal of Medical Genetics; Jan2014, Vol. 51 Issue 1, p1-9, 9p