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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
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
GDF15 is a dynamic biomarker of the integrated stress response in the central nervous system Asundi, Jyoti; Zhang, Chunlian; Donnelly-Roberts, Diana; Solorio, Jose Zavala; Challagundla, Malleswari; Connelly, Caitlin; Boch, Christina; Chen, Jun; Richter, Mario; Maneshi, Mohammad Mehdi; Swensen, Andrew M.; Lebon, Lauren; Schiffmann, Raphael; Sanyal, Subhabrata; Sidrauski, Carmela; Kolumam, Ganesh; Baruch, Amos Share Save
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature Potic, Ana; Perrier, Stefanie; Radovic, Tijana; Gavrilovic, Svetlana; Ostojic, Jelena; Tran, Luan T.; Thiffault, Isabelle; Pastinen, Tomi; Schiffmann, Raphael; Bernard, Genevieve Share Save
Vitamin C Urinary Loss in Fabry Disease: Clinical and Genomic Characteristics of Vitamin C Renal Leak Ebenuwa, Ifechukwude; Violet, Pierre-Christian; Padayatty, Sebastian J.; Wang, Yaohui; Tu, Hongbin; Wilkins, Kenneth J.; Moore, David F.; Eck, Peter; Schiffmann, Raphael; Levine, Mark Share Save
Optimizing human α-galactosidase for treatment of Fabry disease Hallows, William C.; Skvorak, Kristen; Agard, Nick; Kruse, Nikki; Zhang, Xiyun; Zhu, Yu; Botham, Rachel C.; Chng, Chinping; Shukla, Charu; Lao, Jessica; Miller, Mathew; Sero, Antoinette; Viduya, Judy; Ismaili, Moulay Hicham Alaoui; McCluskie, Kerryn; Schiffmann, Raphael; Silverman, Adam P.; Shen, Jin-Song; Huisman, Gjalt W. Share Save
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource Koch, Rebecca L.; Soler-Alfonso, Claudia; Kiely, Bridget T.; Asai, Akihiro; Smith, Ariana L.; Bali, Deeksha S.; Kang, Peter B.; Landstrom, Andrew P.; Akman, H. Orhan; Burrow, T. Andrew; Orthmann-Murphy, Jennifer L.; Goldman, Deberah S.; Pendyal, Surekha; El-Gharbawy, Areeg H.; Austin, Stephanie L.; Case, Laura E.; Schiffmann, Raphael; Hirano, Michio; Kishnani, Priya S. Share Save
Cardiac effects of 4D-310 in adults with Fabry disease in a phase 1/2 clinical trial: Functional, quality of life, and imaging endpoints in patients with 12 months of follow up Schiffmann, Raphael; Goker-Alpan, Ozlem; Vockley, Jerry; Wilcox, William R.; Ortiz, Damara; Nie, Molly; Shen, Jinsong; Tavakkoli, Fatemeh; Kirn, David; Fishman, Robert Share Save
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
Therapy Trial Design in Vanishing White Matter An Expert Consortium Opinion van der Knaap, Marjo S.; Bonkowsky, Joshua L.; Vanderver, Adeline; Schiffmann, Raphael; Kraegeloh-Mann, Ingeborg; Bertini, Enrico; Bernard, Genevieve; Fatemi, Seyed Ali; Wolf, Nicole I.; Saunier-Vivar, Elise; Rauner, Robert; Dekker, Hanka; van Bokhoven, Pieter; van de Ven, Peter; Leferink, Prisca S. Share Save
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Expanded phenotype of AARS1-related white matter disease Heiman, Guy; Mendes, Marisa, I; Nicita, Francesco; Darbelli, Lama; Sherbini, Omar; Moore, Travis; Derksen, Alexa; Pizzino, Amy; Carrozzo, Rosalba; Torraco, Alessandra; Catteruccia, Michela; Aiello, Chiara; Goffrini, Paola; Figuccia, Sonia; Smith, Desiree E. C.; Hadzsiev, Kinga; Hahn, Andreas; Biskup, Saskia; Broesse, Ines; Kotzaeridou, Urania; Gauck, Darja; Grebe, Theresa A.; Elmslie, Frances; Stals, Karen; Gupta, Rajat; Bertini, Enrico; Thiffault, Isabelle; Taft, Ryan J.; Schiffmann, Raphael; Brandl, Ulrich; Haack, Tobias B.; Salomons, Gajja S.; Simons, Cas; Bernard, Genevieve; van der Knaap, Marjo S.; Vanderver, Adeline; Husain, Ralf A. Share Save
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White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology Zerem, Ayelet; Ben-Sira, Liat; Vigdorovich, Nitzan; Leibovitz, Zvi; Fisher, Yael; Schiffmann, Raphael; Grishchuk, Yulia; Misko, Albert L.; Orenstein, Naama; Lev, Dorit; Lerman-Sagie, Tally; Kidron, Debora Share Save
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus Moreno-Martinez, D.; Aguiar, P.; Auray-Blais, C.; Beck, M.; Bichet, D. G.; Burlina, A.; Cole, D.; Elliott, P.; Feldt-Rasmussen, U.; Feriozzi, S.; Fletcher, J.; Giugliani, R.; Jovanovic, A.; Kampmann, C.; Langeveld, M.; Lidove, O.; Linhart, A.; Mauer, M.; Moon, J. C.; Muir, A.; Nowak, A.; Oliveira, J. P.; Ortiz, A.; Pintos-Morell, G.; Politei, J.; Rozenfeld, P.; Schiffmann, R.; Svarstad, E.; Talbot, A. S.; Thomas, M.; Tondel, C.; Warnock, D.; West, M. L.; Hughes, D. A. Share Save
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COVID-19 patient impact: A survey of the Gaucher community involving patients, caregivers and family members based in the US to determine impact of the pandemic Ryan, Emory; Lopez, Grisel; Balwani, Manisha; Barbouth, Deborah; Burrow, T. Andrew; Ginns, Edward; Goker-Alpan, Ozlem; Grabowski, Gregory; Kartha, Reena; Kishnani, Priya; Lau, Heather; Lee, Chung; Mistry, Pramod; Maegawa, Gustavo; Packman, Seymour; Prada, Carlos; Rosenbloom, Barry; Lal, Tamanna Roshan; Schiffmann, Raphael; Weinreb, Neal; Sidransky, Ellen Share Save
Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease Pewzner-Jung, Yael; Joseph, Tammar; Blumenreich, Shani; Vardi, Ayelet; Ferreira, Natalia Santos; Cho, Soo Min; Eilam, Raya; Tsoory, Michael; Biton, Inbal E.; Brumfeld, Vlad; Haffner-Krausz, Rebecca; Brenner, Ori; Sharabi, Nir; Addadi, Yoseph; Salame, Tomer-Meir; Rotkopf, Ron; Wigoda, Noa; Yayon, Nadav; Merrill, Alfred H., Jr.; Schiffmann, Raphael; Futerman, Anthony H. Share Save
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