檢索結果 - Kakkis, Emil

The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases 由 Miyamoto, Brigitta E, Kakkis, Emil D

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The multi-domain responder index: a novel analysis tool to capture a broader assessment of clinical benefit in heterogeneous complex rare diseases 由 Tandon, P. K., Kakkis, Emil D.

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Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders 由 Lochmüller, Hanns, Ramirez, Antonio Nino, Kakkis, Emil

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First Human Treatment With Investigational rhGUS Enzyme Replacement Therapy in an Advanced Stage MPS VII Patient 由 Fox, Joyce E, Volpe, Linda, Bullaro, Josephine, Kakkis, Emil D, Sly, William S

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Long-Term Major Clinical Outcomes in Patients With Long Chain Fatty Acid Oxidation Disorders Before and After Transition to Triheptanoin Treatment—A Retrospective Chart Review 由 Vockley, Jerry, Marsden, Deborah, McCracken, Elizabeth, DeWard, Stephanie, Barone, Amanda, Hsu, Kristen, Kakkis, Emil

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Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII 由 Vogler, Carole, Levy, Beth, Grubb, Jeffrey H., Galvin, Nancy, Tan, Yun, Kakkis, Emil, Pavloff, Nadine, Sly, William S.

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Enzyme Replacement in a Human Model of Mucopolysaccharidosis IVA In Vitro and Its Biodistribution in the Cartilage of Wild Type Mice 由 Dvorak-Ewell, Melita, Wendt, Dan, Hague, Chuck, Christianson, Terri, Koppaka, Vish, Crippen, Danielle, Kakkis, Emil, Vellard, Michel

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Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model 由 Chan, Yiumo Michael, Lee, Paul, Jungles, Steve, Morris, Gabrielle, Cadaoas, Jaclyn, Skrinar, Alison, Vellard, Michel, Kakkis, Emil

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Intrathecal enzyme replacement therapy: Successful treatment of brain disease via the cerebrospinal fluid 由 Dickson, Patricia, McEntee, Michael, Vogler, Carole, Le, Steven, Levy, Beth, Peinovich, Maryn, Hanson, Stephen, Passage, Merry, Kakkis, Emil

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Arterial Pathology in Canine Mucopolysaccharidosis-I and Response to Therapy 由 Lyons, Jeremiah A., Dickson, Patricia, Wall, Jonathan, Passage, Merry, Ellinwood, N. Matthew, Kakkis, Emil D., McEntee, Michael F.

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Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controll... 由 Argov, Zohar, Caraco, Yoseph, Lau, Heather, Pestronk, Alan, Shieh, Perry B., Skrinar, Alison, Koutsoukos, Tony, Ahmed, Ruhi, Martinisi, Julia, Kakkis, Emil

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Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I 由 Dickson, Patricia, Peinovich, Maryn, McEntee, Michael, Lester, Thomas, Le, Steven, Krieger, Aimee, Manuel, Hayden, Jabagat, Catherine, Passage, Merry, Kakkis, Emil D.

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Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitorin... 由 Pogoryelova, Oksana, Cammish, Phillip, Mansbach, Hank, Argov, Zohar, Nishino, Ichizo, Skrinar, Alison, Chan, Yiumo, Nafissi, Shahriar, Shamshiri, Hosein, Kakkis, Emil, Lochmüller, Hanns

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Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints 由 Kakkis, Emil D, O’Donovan, Mary, Cox, Gerald, Hayes, Mark, Goodsaid, Federico, Tandon, PK, Furlong, Pat, Boynton, Susan, Bozic, Mladen, Orfali, May, Thornton, Mark

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Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy 由 Lochmüller, Hanns, Behin, Anthony, Tournev, Ivailo, Tarnopolsky, Mark, Horváth, Rita, Pogoryelova, Oksana, Shah, Jinay, Koutsoukos, Tony, Skrinar, Alison, Kakkis, Emil, Bedrosian, Camille L., Mozaffar, Tahseen

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Mannose 6-Phosphate Conjugation Is Not Sufficient to Allow Induction of Immune Tolerance to Phenylalanine Ammonia-Lyase in Dogs 由 Vera, Moin, Lester, Thomas, Zhao, Bin, Tiger, Pascale, Clarke, Scott, Tippin, Brigette L., Passage, Merry B., Le, Steven Q., Femenia, Javier, Lemontt, Jeffrey F., Kakkis, Emil D., Dickson, Patricia I.

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Results from a 78-week single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD) 由 Vockley, Jerry, Burton, Barbara, Berry, Gerard T., Longo, Nicola, Phillips, John, Sanchez-Valle, Amarilis, Tanpaiboon, Pranoot, Grunewald, Stephanie, Murphy, Elaine, Bowden, Alexandra, Chen, Wencong, Chen, Chao-Yin, Cataldo, Jason, Marsden, Deborah, Kakkis, Emil

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A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy 由 Lochmüller, Hanns, Behin, Anthony, Caraco, Yoseph, Lau, Heather, Mirabella, Massimiliano, Tournev, Ivailo, Tarnopolsky, Mark, Pogoryelova, Oksana, Woods, Catherine, Lai, Alexander, Shah, Jinay, Koutsoukos, Tony, Skrinar, Alison, Mansbach, Hank, Kakkis, Emil, Mozaffar, Tahseen

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Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept 由 Cadaoas, Jaclyn, Hu, Huimin, Boyle, Gabrielle, Gomero, Elida, Mosca, Rosario, Jayashankar, Kartika, Machado, Mike, Cullen, Sean, Guzman, Belle, van de Vlekkert, Diantha, Annunziata, Ida, Vellard, Michel, Kakkis, Emil, Koppaka, Vish, d’Azzo, Alessandra

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Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I 由 Mosca, Rosario, van de Vlekkert, Diantha, Campos, Yvan, Fremuth, Leigh E., Cadaoas, Jaclyn, Koppaka, Vish, Kakkis, Emil, Tifft, Cynthia, Toro, Camilo, Allievi, Simona, Gellera, Cinzia, Canafoglia, Laura, Visser, Gepke, Annunziata, Ida, d’Azzo, Alessandra

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