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Journal of Inherited Metabolic Disease|May 26, 2004
Clinical benefit in Fabry patients given enzyme replacement therapy--a case seriesN Guffon, A FouilhouxLa Revue De Medecine Interne|January 30, 2008
[Current development and usefulness of biomarkers for Gaucher disease follow up]I Maire, N Guffon, R FroissartLa Revue De Medecine Interne|January 30, 2008
[Gaucher disease in childhood]V Levrat, I Forest, A Fouilhoux, et al.Pediatrie|January 1, 1993
[Dietary treatment of maple syrup urine diseases]P Guibaud, L de Parscau, N Guffon, et al.Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|October 27, 2009
[Imerslund-Gräsbeck syndrome]P Choquet, V Levrat, C Pondarre, et al.The Journal of Pediatrics|July 22, 1998
Follow-up of nine patients with Hurler syndrome after bone marrow transplantationN Guffon, G Souillet, I Maire, et al.Journal Francais D'Ophtalmologie|March 16, 2005
[Relation between ocular manifestations and organ involvement in ten patients with Fabry disease]L Fumex-Boizard, P Cochat, A Fouilhoux, et al.Genetic Counseling (Geneva, Switzerland)|September 10, 2015
RECURRENCE OF POMPE DISEASE IN FIRST COUSINSD Lacombe, J B Thambo, M Fayon, et al.Journal Francais D'Ophtalmologie|November 6, 2010
[Ocular manifestations in patients affected by Morquio syndrome (MPS IV)]J Couprie, P Denis, N Guffon, et al.Pageof 4