Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Isaac, Kisinovsky"'
Autor:
Sergio Carmona, Romina Weinschelbaum, Ana Pardal, Cintia Marchesoni, Paz Zuberbuhler, Patricia Acosta, Guillermo Caceres, Isaac Kisinovsky, Luciana Bayón, Ricardo Reisin
Publikováno v:
Audiology Research, Vol 7, Iss 2 (2017)
Fabry disease (FD) is an X-linked lysosomal storage disease, with multisystemic glycosphingolipids deposits. Neuro-otological involvement leading to hearing loss and vestibular dysfunctions has been described, but there is limited information about t
Externí odkaz:
https://doaj.org/article/474695f958cb400d9c35f95d01a29a32
Autor:
Gustavo Ferrari, Ricardo Reisin, Isaac Kisinovsky, Pablo Neumann, Laura Dragonetti, Guillermo Cáceres, Martin Choua, Paula Rozenfeld, Cintia Marchesoni, Verónica Finn, Asociación Argentina de Estudio y Tratamiento de Fabry y otras Enfermedades Lisosomales (AADELFA), Fabry disease investigators
Publikováno v:
Medicina (Buenos Aires), Vol 81, Iss 2, Pp 173-179 (2021)
Cardiovascular mortality (CVM) has become the major contributor to overall Fabry disease (FD) mortality in the enzyme replacement therapy (ERT) era. Our objectives were to describe causes and potential predictors of mortality in FD adult patients in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::ff2c13c452e13214b14d031d7863c065
http://www.medicinabuenosaires.com/PMID/33906134.pdf
http://www.medicinabuenosaires.com/PMID/33906134.pdf
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 3 (2015)
The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads
Externí odkaz:
https://doaj.org/article/4ff5d8c0db0a4cf5b1b6cb209421235c
Autor:
Paula A. Rozenfeld, Isaac Kisinovsky
Publikováno v:
Molecular Genetics and Metabolism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::693a9080de10bbaf4b4029c321c4d51c
http://europepmc.org/articles/PMC8811528
http://europepmc.org/articles/PMC8811528
Autor:
Isaac Kisinovsky, L. Rattagan, Cintia Marchesoni, C. Rollan, L.V. León Cejas, Ana Pardal, Carlos Romero, Elisa M. Cisneros, P. Yáñez, Gustavo Sevlever, Ricardo Reisin, P. Pfister
Publikováno v:
Journal of the Neurological Sciences. 395:131-134
Objective To evaluate the presence of white matter and hemorrhagic lesions in brain MRI of children and adolescents with Fabry disease (FD). Methods Brain MRI studies in 44 consecutive children and teenagers (20 boys, mean age 14.6 years, range 7–2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8abed44e386666c7e4aba7dcdd65a5fd
https://doi.org/10.1016/j.jns.2018.10.009
https://doi.org/10.1016/j.jns.2018.10.009
Autor:
Juan Marcos Mucci, Isaac Kisinovsky, Paula Rozenfeld, María Victoria Delpino, Maria Silvia Larroude, María Fernanda Cuello
Publikováno v:
Blood Cells, Molecules, and Diseases. 55:134-143
Gaucher disease (GD) is caused by mutations in the GBA gene that confer a deficient level of activity of glucocerebrosidase (GCase). This deficiency leads to the accumulation of the glycolipid glucocerebroside in the lysosomes of cells of monocyte/ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::397cd56ca154a192e29ad5b97ea25669
https://doi.org/10.1016/j.bcmd.2015.05.009
https://doi.org/10.1016/j.bcmd.2015.05.009
Autor:
F.A.C.C. Tomás F. Cianciulli M.D., Paula Rozenfeld, Cinthia C. Fernández, Isaac Kisinovsky, Segundo P. Fernández, María C. Saccheri
Publikováno v:
Echocardiography. 32:860-863
We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid-left ventricular level. We describ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79f7de43f6eefc179ce31ef71efac404
https://doi.org/10.1111/echo.12900
https://doi.org/10.1111/echo.12900
Autor:
Romina Weinschelbaum, Ana Pardal, Paz Zuberbuhler, Luciana Bayón, Isaac Kisinovsky, Ricardo Reisin, Sergio Carmona, Patricia Acosta, Guillermo Cáceres, Cintia Marchesoni
Publikováno v:
Audiology Research
Audiology Research; Volume 7; Issue 2; Pages: 176
Audiology Research, Vol 7, Iss 2 (2017)
Audiology Research; Volume 7; Issue 2; Pages: 176
Audiology Research, Vol 7, Iss 2 (2017)
Fabry disease (FD) is an X-linked lysosomal storage disease, with multisystemic glycosphingolipids deposits. Neuro-otological involvement leading to hearing loss and vestibular dysfunctions has been described, but there is limited information about t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::593fc37e67e58af307023ed215ca356a
https://pubmed.ncbi.nlm.nih.gov/28794847
https://pubmed.ncbi.nlm.nih.gov/28794847
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::9a595ed0c376ec7c105e955b157cc734
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802013000600020&lng=en&tlng=en
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802013000600020&lng=en&tlng=en
Publikováno v:
Medicina (Buenos Aires), Vol 73, Iss 1, Pp 31-34 (2013)
Fabry disease is an X-linked lysosomal storage disorder caused by inherited deficiency of the enzyme α-galactosidase A. Enzyme replacement treatment using agalsidase alfa significantly reduces pain, improves cardiac function and quality of life, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::f8e2b67b564a33f10d4213d1c7af902c
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802013000100006
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802013000100006