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Evolution of the retinal function by flash-ERG in one child suffering from neuronal ceroid lipofuscinosis CLN2 treated with cerliponase alpha: case report |
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| Authors: | Rigaudière Florence Nasser Hala Pichard-Oumlil Samia Delouvrier Eliane Lopez-Hernandez Elisa Milani Paolo Auvin Stéphane Delanoë Catherine |
| Institution: | 1.Service de Physiologie Clinique. Explorations Fonctionnelles, H?pital Lariboisière, AP-HP, Paris, France ;2.Faculté de Médecine Paris-Diderot, Université de Paris, Paris, France ;3.Service des Explorations Fonctionnelles, H?pital Robert Debré, AP-HP, Paris, France ;4.Département de Génétique, H?pital Robert Debré, AP-HP, Paris, France ;5.Neurologie Pédiatrique, H?pital Robert Debré, AP-HP, Paris, France ;6.Service d’Ophtalmologie Pédiatrique, H?pital Robert Debré, AP-HP, Paris, France ; |
| Abstract: | Documenta Ophthalmologica - Neuronal ceroid lipofuscinoses (CLN) are neurodegenerative disorders among the most frequent, inherited as an autosomal recessive trait. Affected patients can present... |
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