Neuro-ophthalmological conditions: Study of the clinical care pathway

Autor: Layat, I., Challe, G., LeHoang, P., Bodaghi, B., Touitou, V.

Publikováno v: In Journal Francais d'Ophtalmologie June 2017 40(6):e169-e175

Development and initial validation of a screening tool for visual ability/performance of people with polyhandicap.

Autor: Rousseau MC; APHP, Hôpital San Salvadour, Service polyhandicap adultes, Hyères, France; EA 3279, Self-perceived Health Assessment Research Unit, School of Medicine, Aix Marseille Université, 27 bd Jean Moulin, Marseille 13385, France. Electronic address: marie-christine.rousseau@aphp.fr., Challe G; APHP, Hôpital Pitié Salpêtrière, Service d'ophtalmologie, 83 Bd de l'Hôpital, 75013 Paris, France., Charbonnier S; APHP, Hôpital Pitié Salpêtrière, Service d'ophtalmologie, 83 Bd de l'Hôpital, 75013 Paris, France., Jacquier MT; Assistance Publique Hôpitaux de Paris, Hôpital de La Roche Guyon, Service de Polyhandicap Pédiatrique, France., Valkov M; APHP, Hôpital San Salvadour, Service polyhandicap adultes, Hyères, France., Tourbier V; Centre de soins Antoine de Saint Exupery, UGECAM Nord, Route de la Bassée 62880 Vendin le Vieil, France., Lemaire S; Centre de soins Antoine de Saint Exupery, UGECAM Nord, Route de la Bassée 62880 Vendin le Vieil, France., Guilluy E; Assistance Publique Hôpitaux de Paris, Hôpital de La Roche Guyon, Service de Polyhandicap Pédiatrique, France., Khaldi-Cherif N; Union Générale Caisse Assurance Maladie (UGECAM), Ile de France, France., Nkam L; APHP, Ambroise Paré Hospital, Clinical Research Unit, Boulogne-Billancourt, France., Baumstarck K; EA 3279, Self-perceived Health Assessment Research Unit, School of Medicine, Aix Marseille Université, 27 bd Jean Moulin, Marseille 13385, France., de Villemeur TB; Service de Neuropédiatrie, Pathologie du développement, hôpital Trousseau-La Roche Guyon, France., Aegerter P; GIRCI-IDF, Cellule Méthodologie, Paris, France; Université Paris-Saclay, UVSQ, Inserm, Équipe d'Épidémiologie respiratoire intégrative, U1018 CESP, 94807, Villejuif, France.

Publikováno v: Annals of physical and rehabilitation medicine [Ann Phys Rehabil Med] 2024 Feb; Vol. 67 (1), pp. 101773. Date of Electronic Publication: 2023 Dec 21.

Functional Vision Analysis in Patients With CHARGE Syndrome.

Autor: Martin GC, Robert MP, Challe G, Trinh NTH, Attié-Bitach T, Brémond-Gignac D, Bodaghi B, Abadie V

Publikováno v: Journal of pediatric ophthalmology and strabismus [J Pediatr Ophthalmol Strabismus] 2020 Mar 01; Vol. 57 (2), pp. 120-128.

Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy

Autor: Audrey Boutron, Saudubray Jm, Frédéric Sedel, Challe G, Bertrand Fontaine, Brivet M, Mayer Jm

Publikováno v: Journal of Neurology, Neurosurgery & Psychiatry. 79:846-847

Pyruvate dehydrogenase complex (PDHc) is a thiamine dependent key enzyme for energy production which catalyses decarboxylation of pyruvate into acetyl CoA for the Krebs cycle.1 PDHc deficiency is generally (80%) caused by mutations in the E1α subuni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3a0b08f49709a25175a011d4e1b336d4
https://doi.org/10.1136/jnnp.2007.136630

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