Výsledky vyhledávání - Gerald F. Cox

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  1. 1
    Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy

    Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy Autor Gerald F. Cox

    Vydáno 2007
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  2. 2
    Nicotinamide–adenine dinucleotide-specific isocitrate dehydrogenase from pea mitochondria

    Nicotinamide–adenine dinucleotide-specific isocitrate dehydrogenase from pea mitochondria Autor Gerald F. Cox, D. D. Davies

    Vydáno 1967
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  3. 3
    Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I

    Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I Autor Janet A. Thomas, Michael Beck, Joe T.R. Clarke, Gerald F. Cox

    Vydáno 2010
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  4. 4
    Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients

    Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients Autor Gerald F. Cox, Lorne A. Clarke, Roberto Giugliani, Margaret M. McGovern

    Vydáno 2018
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  5. 5
    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

    Intravenous 2-hydroxypropyl-β-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissu... Autor Caroline A. Hastings, Benny Liu, Bryan Hurst, Gerald F. Cox, Sharon Hrynkow

    Vydáno 2022
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  6. 6
    Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects

    Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects Autor Gerald F. Cox, Joachim Bürger, Va Lip, Ulrike Mau, Karl Sperling, Bai‐Lin Wu, Bernhard Horsthemke

    Vydáno 2002
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  7. 7
    Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

    Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome Autor Jennifer J. Johnston, Richard I. Kelley, Annette Feigenbaum, Gerald F. Cox, Geeta Iyer, Vicky L. Funanage, Roy Proujansky

    Vydáno 1997
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  8. 8
    Liver and Skin Histopathology in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)

    Liver and Skin Histopathology in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B) Autor Beth L. Thurberg, Melissa Wasserstein, Thomas D. Schiano, Fanny O’Brien, Susan Richards, Gerald F. Cox, Margaret M. McGovern

    Vydáno 2012
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  9. 9
    A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration

    A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration Autor Michel Peterschmitt, Gerald F. Cox, Jennifer Ibrahim, James A. MacDougall, Lisa H. Underhill, Palni Patel, Sebastiaan J.M. Gaemers

    Vydáno 2017
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  10. 10
    Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann–Pick disease type B (acid sphingomyelinase deficiency)

    Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann–Pick disease type B (acid sphingom... Autor Margaret M. McGovern, Melissa Wasserstein, Brian Kirmse, W. Lane Duvall, Thomas D. Schiano, Beth L. Thurberg, Susan Richards, Gerald F. Cox

    Vydáno 2015
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  11. 11
    Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry

    Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry Autor Kristin D׳Aco, Lisa H. Underhill, Lakshmi Rangachari, Pamela Arn, Gerald F. Cox, Roberto Giugliani, Torayuki Okuyama, Frits A. Wijburg, Paige Kaplan

    Vydáno 2012
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  12. 12
    Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase (PRKAG2), Not by Phosphorylase Kinase Deficiency

    Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase (PRKAG2), Not by Phosphorylase Kinase Deficien... Autor Barbara Burwinkel, John W. Scott, Christoph Bührer, Frank K.H. van Landeghem, Gerald F. Cox, Callum Wilson, D. Grahame Hardie, Manfred W. Kilimann

    Vydáno 2005
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  13. 13
    Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry

    Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Re... Autor Amal El‐Beshlawy, Anna Tylki‐Szymańska, Ashok Vellodi, Nadia Belmatoug, Gregory A. Grabowski, Edwin H. Kolodny, Julie L. Batista, Gerald F. Cox, Pramod K. Mistry

    Vydáno 2016
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  14. 14
    Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I

    Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I Autor Roberto Giugliani, Taiane Alves Vieira, Clarissa Gutiérrez Carvalho, Maria-Veronica Muñoz-Rojas, А. N. Semyachkina, V. Yu. Voinova, Susan Richards, Gerald F. Cox, Yong Xue

    Vydáno 2017
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  15. 15
    Epidemiology and Cause-Specific Outcome of Hypertrophic Cardiomyopathy in Children

    Epidemiology and Cause-Specific Outcome of Hypertrophic Cardiomyopathy in Children Autor Steven D. Colan, Steven E. Lipshultz, April M. Lowe, Lynn A. Sleeper, Jane Messere, Gerald F. Cox, Paul R. Lurie, E. John Orav, Jeffrey A. Towbin

    Vydáno 2007
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  16. 16
    Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

    Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency Autor Melissa Wasserstein, Simon Jones, Handrean Soran, George A. Díaz, Natalie Lippa, Beth L. Thurberg, Kerry Culm-Merdek, Elias Shamiyeh, Haig Inguilizian, Gerald F. Cox, Ana Cristina Puga

    Vydáno 2015
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  17. 17
    Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases

    Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and repor... Autor David Cassiman, Seymour Packman, Bruno Bembi, Hadhami Ben Turkia, Moeenaldeen Al‐Sayed, Manuel Schiff, Jackie Imrie, Paulina Mabe, Tsutomu Takahashi, Eugen Mengel, Roberto Giugliani, Gerald F. Cox

    Vydáno 2016
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  18. 18
    Corrigendum to “Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases” [Mol. Genet. Metab. 118 (2016) 206–213]

    Corrigendum to “Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature... Autor David Cassiman, Seymour Packman, Bruno Bembi, Hadhami Ben Turkia, Moeenaldeen Al‐Sayed, Manuel Schiff, Jackie Imrie, Paulina Mabe, Tsutomu Takahashi, Eugen Mengel, Roberto Giugliani, Gerald F. Cox

    Vydáno 2017
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  19. 19
    A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy

    A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy Autor Carsten G. Bönnemann, Gerald F. Cox, Frederic Shapiro, Jiann-Jiu Wu, Chris A. Feener, Terri G. Thompson, Douglas C. Anthony, David R. Eyre, Basil T. Darras, Louis M. Kunkel

    Vydáno 2000
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  20. 20
    A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B

    A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B Autor Margaret M. McGovern, Melissa Wasserstein, Roberto Giugliani, Bruno Bembi, Marie T. Vanier, Eugen Mengel, Scott E. Brodie, David S. Mendelson, Gwen Skloot, Robert J. Desnick, Noriko Kuriyama, Gerald F. Cox

    Vydáno 2008
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