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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Journal Article
Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry
Lipshultz, Steven E, Prof, Orav, E John, Prof, Wilkinson, James D, Prof, Towbin, Jeffrey A, Prof, Messere, Jane E, RN, Lowe, April M, MS, Sleeper, Lynn A, ScD, Cox, Gerald F, MD, Hsu, Daphne T, Prof, Canter, Charles E, Prof, Hunter, Juanita A, MD, Colan, Steven D, Prof
Published in The Lancet (British edition) (07.12.2013)
Published in The Lancet (British edition) (07.12.2013)
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Journal Article
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency
Wasserstein, Melissa P., Jones, Simon A., Soran, Handrean, Diaz, George A., Lippa, Natalie, Thurberg, Beth L., Culm-Merdek, Kerry, Shamiyeh, Elias, Inguilizian, Haig, Cox, Gerald F., Puga, Ana Cristina
Published in Molecular genetics and metabolism (01.09.2015)
Published in Molecular genetics and metabolism (01.09.2015)
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Journal Article
Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: A study from the Pediatric Cardiomyopathy Registry
Wilkinson, James D., MD, MPH, Lowe, April M., MS, Salbert, Bonnie A., DO, Sleeper, Lynn A., ScD, Colan, Steven D., MD, Cox, Gerald F., MD, PhD, Towbin, Jeffrey A., MD, Connuck, David M., MD, Messere, Jane E., RN, Lipshultz, Steven E., MD
Published in The American heart journal (01.09.2012)
Published in The American heart journal (01.09.2012)
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Journal Article
Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor
Xie, Qing, Chen, Xiupeng, Ma, Hong, Zhu, Yunxiang, Ma, Yijie, Jalinous, Leila, Cox, Gerald F, Weaver, Fiona, Yang, Jun, Kennedy, Zachary, Gruntman, Alisha, Du, Ailing, Su, Qin, He, Ran, Tai, Phillip WL, Gao, Guangping, Xie, Jun
Published in EMBO molecular medicine (15.04.2024)
Published in EMBO molecular medicine (15.04.2024)
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Journal Article
Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects
Cox, Gerald F., Bürger, Joachim, Lip, Va, Mau, Ulrike A., Sperling, Karl, Wu, Bai-Lin, Horsthemke, Bernhard
Published in American journal of human genetics (01.07.2002)
Published in American journal of human genetics (01.07.2002)
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Journal Article
Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases
Lyn, Nicole, Pulikottil-Jacob, Ruth, Rochmann, Camille, Krupnick, Robert, Gwaltney, Chad, Stephens, Nick, Kissell, Julie, Cox, Gerald F, Fischer, Tanya, Hamed, Alaa
Published in Orphanet journal of rare diseases (15.04.2020)
Published in Orphanet journal of rare diseases (15.04.2020)
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Journal Article
The Incidence of Pediatric Cardiomyopathy in Two Regions of the United States
Lipshultz, Steven E, Sleeper, Lynn A, Towbin, Jeffrey A, Lowe, April M, Orav, E. John, Cox, Gerald F, Lurie, Paul R, McCoy, Kristina L, McDonald, Melissa A, Messere, Jane E, Colan, Steven D
Published in The New England journal of medicine (24.04.2003)
Published in The New England journal of medicine (24.04.2003)
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Journal Article
CAN008 prolongs overall survival in patients with newly diagnosed GBM characterized by high tumor mutational burden
Chang, Ian Yi-Feng, Tsai, Hong-Chieh, Chen, Chia-Hua, Chen, Hsiu-Chi, Huang, Chia-Wen, Cox, Gerald F., Huang, Fang-Min, Lin, You-Yu, Chen, Ko-Ting, Lin, Ya-Jui, Wei, Kuo-Chen
Published in Biomedical Journal (01.08.2024)
Published in Biomedical Journal (01.08.2024)
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Journal Article
Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: A comparative study from the Pediatric Cardiomyopathy Registry
Connuck, David M., MD, Sleeper, Lynn A., ScD, Colan, Steven D., MD, Cox, Gerald F., MD, PhD, Towbin, Jeffrey A., MD, Lowe, April M., MS, Wilkinson, James D., MD, MPH, Orav, E. John, PhD, Cuniberti, Leigha, BA, Salbert, Bonnie A., DO, Lipshultz, Steven E., MD
Published in The American heart journal (01.06.2008)
Published in The American heart journal (01.06.2008)
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Journal Article
Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study
Chapman, Kimberly A., MacEachern, Devon, Cox, Gerald F., Waller, Mavis, Fogarty, Jeanine, Granger, Suzanne, Stepanians, Miganush, Waisbren, Susan
Published in Molecular genetics and metabolism reports (01.03.2023)
Published in Molecular genetics and metabolism reports (01.03.2023)
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Journal Article
The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years
Wilkinson, James D, Landy, David C, Colan, Steven D, Towbin, Jeffrey A, Sleeper, Lynn A, Orav, E John, Cox, Gerald F, Canter, Charles E, Hsu, Daphne T, Webber, Steven A, Lipshultz, Steven E
Published in Heart failure clinics (01.10.2010)
Published in Heart failure clinics (01.10.2010)
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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
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion
Vilboux, Thierry, Ciccone, Carla, Blancato, Jan K, Cox, Gerald F, Deshpande, Charu, Introne, Wendy J, Gahl, William A, Smith, Ann C M, Huizing, Marjan
Published in PloS one (08.08.2011)
Published in PloS one (08.08.2011)
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Journal Article
Intravenous 2-hydroxypropyl-β-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a phase 1 trial
Hastings, Caroline, Liu, Benny, Hurst, Bryan, Cox, Gerald F., Hrynkow, Sharon
Published in Molecular genetics and metabolism (01.12.2022)
Published in Molecular genetics and metabolism (01.12.2022)
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Journal Article
Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I
Giugliani, Roberto, Vieira, Taiane Alves, Carvalho, Clarissa Gutierrez, Muñoz-Rojas, Maria-Veronica, Semyachkina, Alla N., Voinova, Victoria Y., Richards, Susan, Cox, Gerald F., Xue, Yong
Published in Molecular genetics and metabolism reports (01.03.2017)
Published in Molecular genetics and metabolism reports (01.03.2017)
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Journal Article
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses
Kissell, Julie, Rochmann, Camille, Minini, Pascal, Eichler, Florian, Stephen, Christopher D., Lau, Heather, Toro, Camilo, Johnston, Jean M., Krupnick, Robert, Hamed, Alaa, Cox, Gerald F.
Published in Molecular genetics and metabolism (01.07.2024)
Published in Molecular genetics and metabolism (01.07.2024)
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