12 results on '"Benistan K."'
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2. Manifestations ophtalmologiques des syndromes d’Ehlers–Danlos : à propos d’une cohorte de 21 patients
3. Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease
4. Thérapies enzymatiques substitutives des maladies lysosomales
5. Manifestations ORL de la maladie de Fabry
6. X-linked inheritance and its implication in the diagnosis and management of female patients in Fabry disease
7. X-chromosome inactivation in female patients with Fabry disease
8. Le diagnostic prénatal de la maladie de Gaucher
9. La maladie de Fabry : l'atteinte vasculaire multi-organe pourrait également intéresser la cochlée
10. Douleurs et hyperlaxité : est-ce un syndrome d’Ehlers-Danlos hypermobile (SEDh) ?
11. G.P.189 - Ischemic inflammatory myopathy with microangiopathy in Fabry disease.
12. COLLAGEN RELATED MUSCLE DISEASES: EP.59 Genetic etiology of retractile myopathies in a cohort of 80 children under 11 years following NGS analysis.
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