Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I
Clarke, Lorne A, Wraith, J Edmond, Beck, Michael, Kolodny, Edwin H, Pastores, Gregory M, Muenzer, Joseph, Rapoport, David M, Berger, Kenneth I, Sidman, Marisa, Kakkis, Emil D, Cox, Gerald F
Published in Pediatrics (Evanston) (01.01.2009)
Published in Pediatrics (Evanston) (01.01.2009)
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Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase)
Wraith, J Edmond, Beck, Michael, Lane, Roderick, van der Ploeg, Ans, Shapiro, Elsa, Xue, Yong, Kakkis, Emil D, Guffon, Nathalie
Published in Pediatrics (Evanston) (01.07.2007)
Published in Pediatrics (Evanston) (01.07.2007)
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Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study
Trefz, Friedrich K., MD, Burton, Barbara K., MD, Longo, Nicola, MD, PhD, Casanova, Mercedes Martinez-Pardo, MD, Gruskin, Daniel J., MD, Dorenbaum, Alex, MD, Kakkis, Emil D., MD, PhD, Crombez, Eric A., MD, Grange, Dorothy K., MD, Harmatz, Paul, MD, Lipson, Mark H., MD, Milanowski, Andrzej, MD, PhD, Randolph, Linda Marie, MD, Vockley, Jerry, MD, PhD, Whitley, Chester B., MD, PhD, Wolff, Jon A., MD, Bebchuk, Judith, ScD, Christ-Schmidt, Heidi, MSE, Hennermann, Julia B., MD
Published in The Journal of pediatrics (01.05.2009)
Published in The Journal of pediatrics (01.05.2009)
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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 Monitoring Program, registry portion
Pogoryelova, Oksana, Cammish, Phillip, Mansbach, Hank, Argov, Zohar, Nishino, Ichizo, Skrinar, Alison, Chan, Yiumo, Nafissi, Shahriar, Shamshiri, Hosein, Kakkis, Emil, Lochmüller, Hanns
Published in Neuromuscular disorders : NMD (01.02.2018)
Published in Neuromuscular disorders : NMD (01.02.2018)
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Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I
Dickson, Patricia, Peinovich, Maryn, McEntee, Michael, Lester, Thomas, Le, Steven, Krieger, Aimee, Manuel, Hayden, Jabagat, Catherine, Passage, Merry, Kakkis, Emil D
Published in The Journal of clinical investigation (01.08.2008)
Published in The Journal of clinical investigation (01.08.2008)
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Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints
Kakkis, Emil D, O'Donovan, Mary, Cox, Gerald, Hayes, Mark, Goodsaid, Federico, Tandon, P K, Furlong, Pat, Boynton, Susan, Bozic, Mladen, Orfali, May, Thornton, Mark
Published in Orphanet journal of rare diseases (10.02.2015)
Published in Orphanet journal of rare diseases (10.02.2015)
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A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years
Sifuentes, Monica, Doroshow, Robin, Hoft, Richard, Mason, Greg, Walot, Irwin, Diament, Michael, Okazaki, Susan, Huff, Kenneth, Cox, Gerald F., Swiedler, Stuart J., Kakkis, Emil D.
Published in Molecular genetics and metabolism (01.02.2007)
Published in Molecular genetics and metabolism (01.02.2007)
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Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model
Chan, Yiumo Michael, Lee, Paul, Jungles, Steve, Morris, Gabrielle, Cadaoas, Jaclyn, Skrinar, Alison, Vellard, Michel, Kakkis, Emil
Published in PloS one (07.03.2017)
Published in PloS one (07.03.2017)
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Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)
Wraith, James E, Clarke, Lorne A, Beck, Michael, Kolodny, Edwin H, Pastores, Gregory M, Muenzer, Joseph, Rapoport, David M, Berger, Kenneth I, Swiedler, Stuart J, Kakkis, Emil D, Braakman, Tanja, Chadbourne, Elenie, Walton-Bowen, Karen, Cox, Gerald F
Published in The Journal of pediatrics (01.05.2004)
Published in The Journal of pediatrics (01.05.2004)
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Intrathecal enzyme replacement therapy: Successful treatment of brain disease via the cerebrospinal fluid
Dickson, Patricia, McEntee, Michael, Vogler, Carole, Le, Steven, Levy, Beth, Peinovich, Maryn, Hanson, Stephen, Passage, Merry, Kakkis, Emil
Published in Molecular genetics and metabolism (01.05.2007)
Published in Molecular genetics and metabolism (01.05.2007)
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Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study
Harmatz, Paul, Giugliani, Roberto, Schwartz, Ida, Guffon, Nathalie, Teles, Elisa Leão, Miranda, M. Clara Sá, Wraith, J. Edmond, Beck, Michael, Arash, Laila, Scarpa, Maurizio, Yu, Zi-Fan, Wittes, Janet, Berger, Kenneth I., Newman, Mary S., Lowe, Ann M., Kakkis, Emil, Swiedler, Stuart J.
Published in The Journal of pediatrics (01.04.2006)
Published in The Journal of pediatrics (01.04.2006)
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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
Dvorak-Ewell, Melita, Wendt, Dan, Hague, Chuck, Christianson, Terri, Koppaka, Vish, Crippen, Danielle, Kakkis, Emil, Vellard, Michel
Published in PloS one (16.08.2010)
Published in PloS one (16.08.2010)
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Overcoming the Blood-Brain Barrier with High-Dose Enzyme Replacement Therapy in Murine Mucopolysaccharidosis VII
Vogler, Carole, Levy, Beth, Grubb, Jeffrey H., Galvin, Nancy, Tan, Yun, Kakkis, Emil, Nadine Pavloff, Sly, William S.
Published in Proceedings of the National Academy of Sciences - PNAS (11.10.2005)
Published in Proceedings of the National Academy of Sciences - PNAS (11.10.2005)
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