Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Roberto Ebner"'
Publikováno v:
Neuroophthalmology
In this report, we analyse the pre- and post-operative corneal changes observed using in vivo confocal corneal microscopy in a patient with neurotrophic keratitis submitted to a corneal reinnervation surgical procedure. We describe favourable trophic
Autor:
Galeno Rojas, Emilia Gatto, Gustavo Da-Prat, Roberto Ebner, María Bres-Bullrich, Victoria Aldinio, Xavier Merchán-del Hierro
Publikováno v:
Tremor and Other Hyperkinetic Movements
Background: Immunological causes of atypical parkinsonisms linked to neuronal specific antibodies have been recently reported. As these are potentially treatable disorders, it is desirable to identify which clinical features may suggest an autoimmune
Autor:
Roberto Ebner
Publikováno v:
Neuro-Ophthalmology. 43:289-290
Presence of a fourth nerve palsy and ipsilateral Horner's Syndrome (HS) is an exceptional association. A case of a 54 year-old patient with diplopia due to a fourth nerve palsy and acquired HS on the same is presented along with magnetic resonance im
Autor:
Pablo Neumann, Norberto Antongiovanni, Alejandro Fainboim, Isaac Kisinovsky, Hernán Amartino, Gustavo Cabrera, Sergio Carmona, Romina Ceci, Alberto Cicerán, Martín Choua, Griselda Doxastakis, Sonia De Maio, Roberto Ebner, Ana María Escobar, Gustavo Ferrari, Mariano Forrester, Norberto Guelbert, Paula Luna, Cinthia Marchesoni, Francisca Masllorens, Juan Politei, Ricardo Reisin, Diego Ripeau, Paula Rozenfeld, Graciela Serebrinsky, Ana Lía Tarabuso, Juan Trípoli
Publikováno v:
Medicina (Buenos Aires), Vol 73, Iss 5, Pp 482-494 (2013)
La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresad
Publikováno v:
Journal of Neuro-Ophthalmology. 37:e11-e12
Publikováno v:
Clinical and Experimental Ophthalmology. 34:689-694
Background: Fabry disease is an X-linked disorder due to a deficiency of α-galactosidase A and leads to the accumulation of globotriaosylceramide (Gb3) in various cells. The detection of Gb3 deposits may help in the diagnosis. To date, no immunofluo
Publikováno v:
Clinical Genetics. 69:344-348
Fabry disease is an X-linked lysosomal disorder caused by the deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A). In males, the laboratory diagnosis is based on the demonstration of decreased levels of alpha-Gal A activity, while
Publikováno v:
International Ophthalmology. 23:275-278
Purpose: To evaluate if the changes in the peripapillary and papillary retinal nerve fiber layer, in a young girl who presents papillary drusen and ocular hypertension in both eyes. Methods: We studied this case with retinography, Humphrey Visual Fie
Autor:
Pablo, Neumann, Norberto, Antongiovanni, Alejandro, Fainboim, Isaac, Kisinovsky, Hernán, Amartino, Gustavo, Cabrera, Sergio, Carmona, Romina, Ceci, Alberto, Cicerán, Martín, Choua, Griselda, Doxastakis, Sonia, De Maio, Roberto, Ebner, Ana María, Escobar, Gustavo, Ferrari, Mariano, Forrester, Norberto, Guelbert, Paula, Luna, Cinthia, Marchesoni, Francisca, Masllorens, Juan, Politei, Ricardo, Reisin, Diego, Ripeau, Paula, Rozenfeld, Graciela, Serebrinsky, Ana Lía, Tarabuso, Juan, Trípoli
Publikováno v:
Medicina. 73(5)
Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the deve
Autor:
Roberto Ebner
Publikováno v:
Current Opinion in Ophthalmology. 5:27-35
In the reviewed period, articles on peripheral eye movement disorders covered interesting aspects. Localizing value of associated signs, repetitive presentations of palsies, and classical quotations are stressed for the oculomotor nerve. The superior