N Guffon

Summary

Country: France

Publications

  1. ncbi Clinical benefit in Fabry patients given enzyme replacement therapy--a case series
    N Guffon
    Edouard Herriot Hospital, Department of Paediatrics, Lyon, France
    J Inherit Metab Dis 27:221-7. 2004
  2. ncbi Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease
    C M Eng
    Mount Sinai School of Medicine, New York, NY 10029, USA
    N Engl J Med 345:9-16. 2001
  3. ncbi [Vertebro-basilar ischemic strokes and aseptic meningitis, late complications of Fabry's disease]
    X Perrot
    Service de Neurologie B, , France
    Rev Neurol (Paris) 158:596-8. 2002
  4. ncbi Clinical presentation in female patients with Fabry disease
    N Guffon
    J Med Genet 40:e38. 2003
  5. ncbi [Relation between ocular manifestations and organ involvement in ten patients with Fabry disease]
    L Fumex-Boizard
    Service d'Ophtalmologie, Pavillon C, , 5, place d'Arsonval, 69437 Lyon, France
    J Fr Ophtalmol 28:45-50. 2005

Collaborators

Detail Information

Publications5

  1. ncbi Clinical benefit in Fabry patients given enzyme replacement therapy--a case series
    N Guffon
    Edouard Herriot Hospital, Department of Paediatrics, Lyon, France
    J Inherit Metab Dis 27:221-7. 2004
    ..Despite the inherent bias involved in retrospective questionnaires, we believe that the findings are encouraging. A prospective version of the questionnaire is currently under validation...
  2. ncbi Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease
    C M Eng
    Mount Sinai School of Medicine, New York, NY 10029, USA
    N Engl J Med 345:9-16. 2001
    ....
  3. ncbi [Vertebro-basilar ischemic strokes and aseptic meningitis, late complications of Fabry's disease]
    X Perrot
    Service de Neurologie B, , France
    Rev Neurol (Paris) 158:596-8. 2002
    ..Biological tests showed the presence of an aseptic meningitis and a biological inflammatory syndrome, suggesting a particularly progressive illness. The possible mechanisms involved in this exceptional association are discussed...
  4. ncbi Clinical presentation in female patients with Fabry disease
    N Guffon
    J Med Genet 40:e38. 2003
  5. ncbi [Relation between ocular manifestations and organ involvement in ten patients with Fabry disease]
    L Fumex-Boizard
    Service d'Ophtalmologie, Pavillon C, , 5, place d'Arsonval, 69437 Lyon, France
    J Fr Ophtalmol 28:45-50. 2005
    ..However, there is no clear relationship between the presentation of the systemic cardiac and renal manifestations of the disease and the presence of ocular abnormalities...