Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Cintia, Marchesoni"'
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Fabry disease (FD) is an X-linked disorder of glycosphingolipids caused by mutations of the GLA gene. The classical form presents with neuropathic pain and gastrointestinal complaints since childhood or adolescence and progressing into adult
Externí odkaz:
https://doaj.org/article/f593d4cd9a884a83b23b05fae5b517dc
Autor:
Annemiek A. van der Eijk, Judith Drenthen, Wilson Marques, Laura de Koning, Suzanne C. Franken, Cintia Marchesoni, Nortina Shahrizaila, Selma M. B. Jeronimo, Manou R. Batstra, Samuel Arends, Sonja E. Leonhard, Mario-Emilio Dourado, Cheng-Yin Tan, Bart C. Jacobs, Ruth Huizinga, Ricardo R. Reisin, Andrea Sotelo, Belen Tillard, Dardo F. Casas, Luciana Leon Cejas
Publikováno v:
Journal of the Peripheral Nervous System, 26(4), 449-460. Wiley-Blackwell Publishing Ltd
Half of the world's population is at risk of arthropod-borne virus (arbovirus) infections. Several arbovirus infections have been associated with Guillain-Barré syndrome (GBS). We investigated whether arboviruses are driving GBS beyond epidemic phas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c3bd253197e4640ae5f1b2f5f7311b0
https://doi.org/10.1111/jns.12469
https://doi.org/10.1111/jns.12469
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
Autor:
Miguel Ángel Saucedo, Luciana León Cejas, Cintia Marchesoni, Ana Pardal, Ricardo Claudio Reisin
Publikováno v:
Revista de Neurología. 76:209
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::27a6037a906500dbd6cca029da2a09c5
https://doi.org/10.33588/rn.7606.2021287
https://doi.org/10.33588/rn.7606.2021287
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210015, Published: 18 AUG 2021
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210015, Published: 18 AUG 2021
Fabry disease (FD) is an X-linked disorder of glycosphingolipids caused by mutations of the GLA gene. The classical form presents with neuropathic pain and gastrointestinal complaints since childhood or adolescence and progressing into adulthood with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a4c61363e1201062a8d21eaa68743dc
https://doi.org/10.1590/2326-4594-jiems-2021-0015
https://doi.org/10.1590/2326-4594-jiems-2021-0015
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:
Luciana Leon Cejas, Laura Pirra, Fabiana Lubinieki, A.L. Taratuto, Mariano Socolovsky, Daniela Binaghi, Ricardo Reisin, Alberto Dubrovsky, Gabriela Peretti, Cintia Marchesoni, Ana Pardal, Soledad Monges
Publikováno v:
Journal of the Peripheral Nervous System. 23:23-28
Intraneural perineurioma (IP) is an under-recognized hypertrophic peripheral nerve tumor. It affects young patients involving frequently the sciatic nerve and its branches and presents with a progressive, painless and predominantly motor deficit. Mag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::807d35aec8afa902081fbaf62cbe7e55
https://doi.org/10.1111/jns.12240
https://doi.org/10.1111/jns.12240
Autor:
Manuel Perez Akly, Gisella Gargiulo, Paula Landriscina, Marcelo Rugiero, Valeria Lujan Salutto, Cintia Marchesoni, Mario Melcom, Ricardo Reisin, Marianna Di Egidio, Claudio Mazia, Patricio Brand, Belen Tillard, Marianela Schiava, Ernesto Fulgenzi, Gabriel Rodriguez, Mariela Bettini, Fabio Barroso, Bruno de Ambrosi, Luis Fiorotto, Mariana Bendersky, Roberto Rey, Agustín Jáuregui
Introduction: Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease of unknown cause, characterized by the simultaneous involvement of the upper and lower motor neurons. Epidemiological studies have estimated its annual incidence between
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::744c86846abc33410b5aa5ebf0ceb2a2
https://www.sciencedirect.com/science/article/abs/pii/S185300281730068X
https://www.sciencedirect.com/science/article/abs/pii/S185300281730068X
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