Works matching AU Mengel, Eugen


Results: 79
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    Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.

    Published in:
    2020
    By:
    • 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
    Publication type:
    journal article
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    Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02983-0
    By:
    • Wasserstein, Melissa P.;
    • Lachmann, Robin;
    • Hollak, Carla;
    • Barbato, Antonio;
    • Gallagher, Renata C.;
    • Giugliani, Roberto;
    • Guelbert, Norberto Bernardo;
    • Hennermann, Julia B.;
    • Ikezoe, Takayuki;
    • Lidove, Olivier;
    • Mabe, Paulina;
    • Mengel, Eugen;
    • Scarpa, Maurizio;
    • Senates, Ebubekir;
    • Tchan, Michel;
    • Villarrubia, Jesus;
    • Thurberg, Beth L.;
    • Yarramaneni, Abhimanyu;
    • Armstrong, Nicole M.;
    • Kim, Yong
    Publication type:
    Article
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    Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B).

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02686-6
    By:
    • Geberhiwot, Tarekegn;
    • Wasserstein, Melissa;
    • Wanninayake, Subadra;
    • Bolton, Shaun Christopher;
    • Dardis, Andrea;
    • Lehman, Anna;
    • Lidove, Olivier;
    • Dawson, Charlotte;
    • Giugliani, Roberto;
    • Imrie, Jackie;
    • Hopkin, Justin;
    • Green, James;
    • de Vicente Corbeira, Daniel;
    • Madathil, Shyam;
    • Mengel, Eugen;
    • Ezgü, Fatih;
    • Pettazzoni, Magali;
    • Sjouke, Barbara;
    • Hollak, Carla;
    • Vanier, Marie T.
    Publication type:
    Article
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    Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.

    Published in:
    Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02587-0
    By:
    • Diaz, George A.;
    • Giugliani, Roberto;
    • Guffon, Nathalie;
    • Jones, Simon A.;
    • Mengel, Eugen;
    • Scarpa, Maurizio;
    • Witters, Peter;
    • Yarramaneni, Abhimanyu;
    • Li, Jing;
    • Armstrong, Nicole M.;
    • Kim, Yong;
    • Ortemann-Renon, Catherine;
    • Kumar, Monica
    Publication type:
    Article
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    Mutations in ABCD4 cause a new inborn error of vitamin B<sub>12</sub> metabolism.

    Published in:
    Nature Genetics, 2012, v. 44, n. 10, p. 1152, doi. 10.1038/ng.2386
    By:
    • Coelho, David;
    • Kim, Jaeseung C;
    • Miousse, Isabelle R;
    • Fung, Stephen;
    • du Moulin, Marcel;
    • Buers, Insa;
    • Suormala, Terttu;
    • Burda, Patricie;
    • Frapolli, Michele;
    • Stucki, Martin;
    • Nürnberg, Peter;
    • Thiele, Holger;
    • Robenek, Horst;
    • Höhne, Wolfgang;
    • Longo, Nicola;
    • Pasquali, Marzia;
    • Mengel, Eugen;
    • Watkins, David;
    • Shoubridge, Eric A;
    • Majewski, Jacek
    Publication type:
    Article
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    Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.

    Published in:
    2014
    By:
    • te Vruchte, Danielle;
    • Speak, Anneliese O;
    • Wallom, Kerri L;
    • Al Eisa, Nada;
    • Smith, David A;
    • Hendriksz, Christian J;
    • Simmons, Louise;
    • Lachmann, Robin H;
    • Cousins, Alison;
    • Hartung, Ralf;
    • Mengel, Eugen;
    • Runz, Heiko;
    • Beck, Michael;
    • Amraoui, Yasmina;
    • Imrie, Jackie;
    • Jacklin, Elizabeth;
    • Riddick, Kate;
    • Yanjanin, Nicole M;
    • Wassif, Christopher A;
    • Rolfs, Arndt
    Publication type:
    journal article
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    Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.

    Published in:
    Journal of Clinical Investigation, 2014, v. 124, n. 3, p. 1320, doi. 10.1172/JCI72835
    By:
    • te Vruchte, Danielle;
    • Speak, Anneliese O.;
    • Wallom, Kerri L.;
    • Al Eisa, Nada;
    • Smith, David A.;
    • Hendriksz, Christian J.;
    • Simmons, Louise;
    • Lachmann, Robin H.;
    • Cousins, Alison;
    • Hartung, Ralf;
    • Mengel, Eugen;
    • Runz, Heiko;
    • Beck, Michael;
    • Amraoui, Yasmina;
    • Imrie, Jackie;
    • Jacklin, Elizabeth;
    • Riddick, Kate;
    • Yanjanin, Nicole M.;
    • Wassif, Christopher A.;
    • Rolfs, Arndt
    Publication type:
    Article
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    Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann- Pick disease type C.

    Published in:
    European Journal of Immunology, 2012, v. 42, n. 7, p. 1886, doi. 10.1002/eji.201141821
    By:
    • Speak, Anneliese O.;
    • Platt, Nicholas;
    • Salio, Mariolina;
    • te Vruchte, Danielle;
    • Smith, David A.;
    • Shepherd, Dawn;
    • Veerapen, Natacha;
    • Besra, Gurdyal S.;
    • Yanjanin, Nicole M.;
    • Simmons, Louise;
    • Imrie, Jackie;
    • Wraith, James E.;
    • Lachmann, Robin H.;
    • Hartung, Ralf;
    • Runz, Heiko;
    • Mengel, Eugen;
    • Beck, Michael;
    • Hendriksz, Christian J.;
    • Porter, Forbes D.;
    • Cerundolo, Vincenzo
    Publication type:
    Article
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    Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024.

    Published in:
    European Journal of Neurology, 2024, v. 31, n. 9, p. 1, doi. 10.1111/ene.16383
    By:
    • Schoser, Benedikt;
    • van der Beek, Nadine A. M. E.;
    • Broomfield, Alexander;
    • Brusse, Esther;
    • Diaz‐Manera, Jordi;
    • Hahn, Andreas;
    • Hundsberger, Thomas;
    • Kornblum, Cornelia;
    • Kruijshaar, Michelle;
    • Laforet, Pascal;
    • Mengel, Eugen;
    • Mongini, Tiziana;
    • Orlikowski, David;
    • Parenti, Giancarlo;
    • Pijnappel, W. W. M. Pim;
    • Roberts, Mark;
    • Scherer, Thomas;
    • Toscano, Antonio;
    • Vissing, John;
    • van den Hout, Johanna M. P.
    Publication type:
    Article
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    A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C.

    Published in:
    European Journal of Neurology, 2021, v. 28, n. 9, p. 3040, doi. 10.1111/ene.14955
    By:
    • Bremova‐Ertl, Tatiana;
    • Abel, Larry;
    • Walterfang, Mark;
    • Salsano, Ettore;
    • Ardissone, Anna;
    • Malinová, Věra;
    • Kolníková, Miriam;
    • Gascón Bayarri, Jordi;
    • Reza Tavasoli, Ali;
    • Reza Ashrafi, Mahmoud;
    • Amraoui, Yasmina;
    • Mengel, Eugen;
    • Kolb, Stefan A.;
    • Brecht, Andreas;
    • Bardins, Stanislavs;
    • Strupp, Michael
    Publication type:
    Article
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    Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-151
    By:
    • Yildiz, Yildiz;
    • Hoffmann, Per;
    • Dahl, Stefan vom;
    • Breiden, Bernadette;
    • Sandhoff, Roger;
    • Niederau, Claus;
    • Horwitz, Mia;
    • Karlsson, Stefan;
    • Filocamo, Mirella;
    • Elstein, Deborah;
    • Beck, Michael;
    • Sandhoff, Konrad;
    • Mengel, Eugen;
    • Gonzalez, Maria C.;
    • Nöthen, Markus M.;
    • Sidransky, Ellen;
    • Zimran, Ari;
    • Mattheisen, Manuel
    Publication type:
    Article
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    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.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1463, doi. 10.1002/jimd.12428
    By:
    • 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
    Publication type:
    Article
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    Quantitative retrospective natural history modeling for orphan drug development.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 99, doi. 10.1002/jimd.12304
    By:
    • Garbade, Sven F.;
    • Zielonka, Matthias;
    • Komatsuzaki, Shoko;
    • Kölker, Stefan;
    • Hoffmann, Georg F.;
    • Hinderhofer, Katrin;
    • Mountford, William K.;
    • Mengel, Eugen;
    • Sláma, Tomáš;
    • Mechler, Konstantin;
    • Ries, Markus
    Publication type:
    Article
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    The definition of neuronopathic Gaucher disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1056, doi. 10.1002/jimd.12235
    By:
    • Schiffmann, Raphael;
    • Sevigny, Jeff;
    • Rolfs, Arndt;
    • Davies, Elin Haf;
    • Goker‐Alpan, Ozlem;
    • Abdelwahab, Magy;
    • Vellodi, Ashok;
    • Mengel, Eugen;
    • Lukina, Elena;
    • Yoo, Han‐Wook;
    • Collin‐Histed, Tanya;
    • Narita, Aya;
    • Dinur, Tama;
    • Revel‐Vilk, Shoshana;
    • Arkadir, David;
    • Szer, Jeff;
    • Wajnrajch, Michael;
    • Ramaswami, Uma;
    • Sidransky, Ellen;
    • Donald, Aimee
    Publication type:
    Article