Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
McGovern, Margaret M, Wasserstein, Melissa P, Bembi, Bruno, Giugliani, Roberto, Mengel, K Eugen, Vanier, Marie T, Zhang, Qi, Peterschmitt, M Judith
Published in Orphanet journal of rare diseases (10.05.2021)
Published in Orphanet journal of rare diseases (10.05.2021)
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Journal Article
Long-term adverse event profile from four completed trials of oral eliglustat in adults with Gaucher disease type 1
Peterschmitt, M Judith, Freisens, Selena, Underhill, Lisa H, Foster, Meredith C, Lewis, Grace, Gaemers, Sebastiaan J M
Published in Orphanet journal of rare diseases (07.06.2019)
Published in Orphanet journal of rare diseases (07.06.2019)
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Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatment
Lukina, Elena, Watman, Nora, Dragosky, Marta, Pastores, Gregory M, Arreguin, Elsa Avila, Rosenbaum, Hanna, Zimran, Ari, Angell, Jennifer, Ross, Leorah, Puga, Ana Cristina, Peterschmitt, Judith M
Published in Blood cells, molecules, & diseases (01.12.2014)
Published in Blood cells, molecules, & diseases (01.12.2014)
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Journal Article
Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1
Mistry, Pramod K., Balwani, Manisha, Baris, Hagit N., Turkia, Hadhami Ben, Burrow, T. Andrew, Charrow, Joel, Cox, Gerald F., Danda, Sumita, Dragosky, Marta, Drelichman, Guillermo, El-Beshlawy, Amal, Fraga, Cristina, Freisens, Selena, Gaemers, Sebastiaan, Hadjiev, Evgueniy, Kishnani, Priya S., Lukina, Elena, Maison-Blanche, Pierre, Martins, Ana Maria, Pastores, Gregory, Petakov, Milan, Peterschmitt, M. Judith, Rosenbaum, Hanna, Rosenbloom, Barry, Underhill, Lisa H., Cox, Timothy M.
Published in Blood cells, molecules, & diseases (01.07.2018)
Published in Blood cells, molecules, & diseases (01.07.2018)
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Journal Article
Disease progression strikingly differs in research and real-world Parkinson's populations
Beaulieu-Jones, Brett K, Frau, Francesca, Bozzi, Sylvie, Chandross, Karen J, Peterschmitt, M Judith, Cohen, Caroline, Coulovrat, Catherine, Kumar, Dinesh, Kruger, Mark J, Lipnick, Scott L, Fitzsimmons, Lane, Kohane, Isaac S, Scherzer, Clemens R
Published in NPJ Parkinson's Disease (13.03.2024)
Published in NPJ Parkinson's Disease (13.03.2024)
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Journal Article
A Quantitative Systems Pharmacology Model of Gaucher Disease Type 1 Provides Mechanistic Insight Into the Response to Substrate Reduction Therapy With Eliglustat
Abrams, Ruth, Kaddi, Chanchala D., Tao, Mengdi, Leiser, Randolph J., Simoni, Giulia, Reali, Federico, Tolsma, John, Jasper, Paul, Rijn, Zachary, Li, Jing, Niesner, Bradley, Barrett, Jeffrey S., Marchetti, Luca, Peterschmitt, M. Judith, Azer, Karim, Neves‐Zaph, Susana
Published in CPT: pharmacometrics and systems pharmacology (01.07.2020)
Published in CPT: pharmacometrics and systems pharmacology (01.07.2020)
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Journal Article
Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1
Vu, Lucie, Cox, Gerald F., Ibrahim, Jennifer, Peterschmitt, M. Judith, Ross, Leorah, Thibault, Nathan, Turpault, Sandrine
Published in Molecular genetics and metabolism reports (01.03.2020)
Published in Molecular genetics and metabolism reports (01.03.2020)
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Journal Article
Safety, tolerability, and pharmacokinetics of eliglustat tartrate (Genz-112638) after single doses, multiple doses, and food in healthy volunteers
Peterschmitt, M Judith, Burke, Amy, Blankstein, Larry, Smith, Sharon E, Puga, Ana Cristina, Kramer, William G, Harris, James A, Mathews, David, Bonate, Peter L
Published in Journal of clinical pharmacology (01.05.2011)
Published in Journal of clinical pharmacology (01.05.2011)
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Journal Article
Clinical response to eliglustat in treatment-naïve patients with Gaucher disease type 1: Post-hoc comparison to imiglucerase-treated patients enrolled in the International Collaborative Gaucher Group Gaucher Registry
Ibrahim, Jennifer, Underhill, Lisa H., Taylor, John S., Angell, Jennifer, Peterschmitt, M. Judith
Published in Molecular genetics and metabolism reports (01.09.2016)
Published in Molecular genetics and metabolism reports (01.09.2016)
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Journal Article
Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4years of treatment
Lukina, Elena, Watman, Nora, Dragosky, Marta, Pastores, Gregory M., Arreguin, Elsa Avila, Rosenbaum, Hanna, Zimran, Ari, Angell, Jennifer, Ross, Leorah, Puga, Ana Cristina, Peterschmitt, Judith M.
Published in Blood cells, molecules, & diseases (01.12.2014)
Published in Blood cells, molecules, & diseases (01.12.2014)
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Journal Article
Safety and efficacy of venglustat in GBA1-associated Parkinson's disease: an international, multicentre, double-blind, randomised, placebo-controlled, phase 2 trial
Giladi, Nir, Alcalay, Roy N, Cutter, Gary, Gasser, Thomas, Gurevich, Tanya, Höglinger, Günter U, Marek, Kenneth, Pacchetti, Claudio, Schapira, Anthony H V, Scherzer, Clemens R, Simuni, Tanya, Minini, Pascal, Sardi, S Pablo, Peterschmitt, M Judith
Published in Lancet neurology (01.08.2023)
Published in Lancet neurology (01.08.2023)
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Journal Article
Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1: The ENGAGE Randomized Clinical Trial
Mistry, Pramod K, Lukina, Elena, Ben Turkia, Hadhami, Amato, Dominick, Baris, Hagit, Dasouki, Majed, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Pastores, Gregory, Petakov, Milan, Assouline, Sarit, Balwani, Manisha, Danda, Sumita, Hadjiev, Evgueniy, Ortega, Andres, Shankar, Suma, Solano, Maria Helena, Ross, Leorah, Angell, Jennifer, Peterschmitt, M. Judith
Published in JAMA : the journal of the American Medical Association (17.02.2015)
Published in JAMA : the journal of the American Medical Association (17.02.2015)
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Journal Article
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1
Cox, Timothy M., Charrow, Joel, Lukina, Elena, Mistry, Pramod K., Foster, Meredith C., Peterschmitt, M. Judith
Published in Genetics in medicine (01.02.2023)
Published in Genetics in medicine (01.02.2023)
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Journal Article
Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial
Schiffmann, Raphael, Cox, Timothy M, Dedieu, Jean-François, 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
Published in Brain (London, England : 1878) (13.02.2023)
Published in Brain (London, England : 1878) (13.02.2023)
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Journal Article
Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment
Thurberg, Beth L., Diaz, George A., Lachmann, Robin H., Schiano, Thomas, Wasserstein, Melissa P., Ji, Allena J., Zaher, Atef, Peterschmitt, M. Judith
Published in Molecular genetics and metabolism (01.09.2020)
Published in Molecular genetics and metabolism (01.09.2020)
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Journal Article
Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial
Lukina, Elena, Watman, Nora, Dragosky, Marta, Lau, Heather, Avila Arreguin, Elsa, Rosenbaum, Hanna, Zimran, Ari, Foster, Meredith C., Gaemers, Sebastiaan J. M., Peterschmitt, M. Judith
Published in American journal of hematology (01.01.2019)
Published in American journal of hematology (01.01.2019)
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Journal Article
Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy
Cox, Timothy M., Drelichman, Guillermo, Cravo, Renata, Balwani, Manisha, Burrow, Thomas Andrew, Martins, Ana Maria, Lukina, Elena, Rosenbloom, Barry, Goker-Alpan, Ozlem, Watman, Nora, El-Beshlawy, Amal, Kishnani, Priya S., Pedroso, Maria Lucia, Gaemers, Sebastiaan J.M., Tayag, Regina, Peterschmitt, M.Judith
Published in Blood (27.04.2017)
Published in Blood (27.04.2017)
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Journal Article
Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial
Mistry, Pramod K., Lukina, Elena, Ben Turkia, Hadhami, Shankar, Suma P., Baris, Hagit, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Pastores, Gregory, Petakov, Milan, Assouline, Sarit, Balwani, Manisha, Danda, Sumita, Hadjiev, Evgueniy, Ortega, Andres, Gaemers, Sebastiaan J. M., Tayag, Regina, Peterschmitt, M. Judith
Published in American journal of hematology (01.11.2017)
Published in American journal of hematology (01.11.2017)
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Journal Article
Plasma glucosylsphingosine correlations with baseline disease burden and response to eliglustat in two clinical trials of previously untreated adults with Gaucher disease type 1
Peterschmitt, M. Judith, Foster, Meredith C., Ji, Allena J., Zajdel, Marianne B., Cox, Gerald F.
Published in Molecular genetics and metabolism (01.03.2023)
Published in Molecular genetics and metabolism (01.03.2023)
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Journal Article
Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Oral Venglustat in Healthy Volunteers
Peterschmitt, M. Judith, Crawford, Nigel P. S., Gaemers, Sebastiaan J. M., Ji, Allena J., Sharma, Jyoti, Pham, Theresa T.
Published in Clinical pharmacology in drug development (01.01.2021)
Published in Clinical pharmacology in drug development (01.01.2021)
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