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Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment Schiffmann, Raphael; Turnbull, James; Krupnick, Robert; Pulikottil-Jacob, Ruth; Gwaltney, Chad; Hamed, Alaa; Batsu, Isabela; Heine, Walter; Mengel, Eugen Share Save
Trappsol® CycloTM (hpβCd) for the long-term treatment of Niemann Pick type C1: Efficacy and safety data from 4 clinical studies and the ongoing expanded access program Hastings, Caroline A.; Ezgu, Fatih S.; Giugliani, Roberto; Kiec-Wilk, Beata; Pawlinski, Lukasz; Mengel, Eugen; Martin-Hernandez, Elena; Ucar, Seema; Sharma, Reena; Smith, Nicholas J. C.; Chien, Yin-Hsiu; Walterfang, Mark; Alsayed, Moeen; Goker-Alpan, Ozlem; Mendonca, Leonardo O.; Raiman, Julian A.; Spiegel, Ronen; Barone, Rita Maria Elisa; Burlina, Alberto; Calandra, Cristian R.; Bayarri, Jordi Gascon; Peters, Heidi; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph Share Save
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Long-term findings of N-acetyl-L-leucine for Niemann-Pick disease type C Bremova-Ertl, Tatiana; Gautschi, Matthias; Gissen, Paul; Hahn, Andreas; Jones, Simon; Mengel, Eugen; Arash-Kaps, Laila; Mendoz, Grecia; Park, Julien H.; Ramaswami, Uma; Martakis, Kyriakos; Brands, Marion Share Save
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A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE) Heron, Benedicte; Batzios, Spyros; Mengel, Eugen; Giugliani, Roberto; Patterson, Marc; Gautschi, Matthias; Cornelisse, Peter; Trokan, Luba; Schwierin, Barbara; Rohrbach, Marianne Share Save
Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP) Schiffmann, Raphael; Mengel, Eugen; Wallace, Mary; Rochmann, Camille; Turnbull, James; Krupnick, Robert; Gwaltney, Chad; Pulikottil-Jacob, Ruth; Batsu, Isabela; Zheng, Riliang; Hamed, Alaa Share Save
Trial of N-Acetyl-L-Leucine in Niemann-Pick Disease Type C 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.; Reichmannova, Stella; Schneider, Susanne A.; Sivananthan, Siyamini; Walterfang, Mark; Wibawa, Pierre; Strupp, Michael; Martakis, Kyriakos Share Save
Results of a phase III, randomized, placebo-controlled crossover trial with N-acetyl-L-leucine for Niemann-Pick disease type C Fields, Taylor; Bremova-Ertl, Tatiana; Ramaswami, Uma; Brands, Marion; Gautschi, Matthias; Gissen, Paul; Hahn, Andreas; Jones, Simon; Kolnikova, Miriam; Arash-Karps, Laila; Mengel, Eugen; Park, Julien; Reichmannova, Stella; Schneider, Susanne; Sivananthan, Siyamini; Walterfang, Mark; Wibawa, Pierre; Strupp, Michael; Martakis, Kyriakos Share Save
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Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial Schiffmann, Raphael; Cox, Timothy M.; Dedieu, Jean-Francois; Gaemers, Sebastiaan J. M.; Hennermann, Julia B.; Ida, Hiroyuki; Mengel, Eugen; Minini, Pascal; Mistry, Pramod; Musholt, Petra B.; Scott, David; Sharma, Jyoti; Peterschmitt, M. Judith Share Save
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency (vol 23, pg 1543, 2021) Diaz, George A.; Jones, Simon A.; Scarpa, Maurizio; Mengel, Karl Eugen; Giugliani, Roberto; Guffon, Nathalie; Batsu, Isabela; Fraser, Patricia A.; Li, Jing; Zhang, Qi; Ortemann-Renon, Catherine Share Save
Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease Dimachkie, Mazen M.; Barohn, Richard J.; Byrne, Barry; Goker-Alpan, Ozlem; Kishnani, Priya S.; Ladha, Shafeeq; Laforet, Pascal; Mengel, Karl Eugen; Pena, Loren D. M.; Sacconi, Sabrina; Straub, Volker; Trivedi, Jaya; Van Damme, Philip; van der Ploeg, Ans T.; Vissing, John; Young, Peter; Haack, Kristina An; Foster, Meredith; Gilbert, Jane M.; Miossec, Patrick; Vitse, Olivier; Zhou, Tianyue; Schoser, Benedikt Share Save
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency Diaz, George A.; Jones, Simon A.; Scarpa, Maurizio; Mengel, Karl Eugen; Giugliani, Roberto; Guffon, Nathalie; Batsu, Isabela; Fraser, Patricia A.; Li, Jing; Zhang, Qi; Ortemann-Renon, Catherine Share Save
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study (vol 15, 328, 2020) Mengel, Eugen; Bembi, Bruno; del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Heron, Benedicte; 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; Dali, Christine i Share Save
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NEO1/NEO-EXT studies: Safety and exploratory efficacy of repeat avalglucosidase alfa dosing after up to 6 years in participants with late-onset pompe disease (LOPD) Dimachkie, Mazen M.; Barohn, Richard J.; Byrne, Barry; Goker-Alpan, Ozlem; Kishnani, Priya S.; Ladha, Shafeeq; Laforet, Pascal; Mengel, Karl Eugen; Pena, Loren D. M.; Sacconi, Sabrina; Straub, Volker; Trivedi, Jaya; Van Damme, Philip; van der Ploeg, Ans; Vissing, John; Young, Peter; Haack, Kristina An; Ivanina, Inna; Lu, Xiaoyu; Schoser, Benedikt Share Save
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study Mengel, Eugen; Bembi, Bruno; del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Heron, Benedicte; 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; i Dali, Christine Share Save
NEO1 and NEO-EXT studies: Long-term safety and exploratory efficacy of repeat avalglucosidase alfa dosing for 5.5 years in late-onset Pompe disease patients Dimachkie, Mazen M.; Barohn, Richard J.; Byrne, Barry; Goker-Alpan, Ozlem; Kishnani, Priya S.; Ladha, Shafeeq; Laforet, Pascal; Mengel, Karl Eugen; Pena, Loren D. M.; Sacconi, Sabrina; Straub, Volker; Trivedi, Jaya; Van Damme, Philip; van der Ploeg, Ans; Vissing, John; Young, Peter; Haack, Kristina An; Fleurinck, Carmen; Johnson, Judith; Liu, Kejian; Schoser, Benedikt Share Save
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