Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Conrado Medici"'
Autor:
Víctor Raggio, Nicolas Dell’Oca, Camila Simoes, Alejandra Tapié, Conrado Medici, Gonzalo Costa, Soledad Rodriguez, Gonzalo Greif, Estefania Garrone, María Laura Rovella, Virgina Gonzalez, Margarita Halty, Gabriel González, Jong-Yeon Shin, Sang-Yoon Shin, Changhoon Kim, Jeong-Sun Seo, Martin Graña, Hugo Naya, Lucia Spangenberg
Publikováno v:
Human Genomics, Vol 15, Iss 1, Pp 1-9 (2021)
Abstract Background Rare diseases are pathologies that affect less than 1 in 2000 people. They are difficult to diagnose due to their low frequency and their often highly heterogeneous symptoms. Rare diseases have in general a high impact on the qual
Externí odkaz:
https://doaj.org/article/08b04bba944b49f68cb837b2d586bf94
Autor:
Sang-Yoon Shin, Camila Simoes, Lucía Spangenberg, Alejandra Tapié, Gabriel González, Víctor Raggio, Margarita Halty, Gonzalo Greif, Hugo Naya, Changhoon Kim, Jong-Yeon Shin, Nicolás Dell’Oca, Virgina Gonzalez, Estefania Garrone, Martín Graña, María Laura Rovella, Conrado Medici, Jeong-Sun Seo, Gonzalo Costa, Soledad Rodríguez
Publikováno v:
Human Genomics
REDI
Institut Pasteur de Montevideo
instacron:Institut Pasteur de Montevideo
Human Genomics, Vol 15, Iss 1, Pp 1-9 (2021)
REDI
Institut Pasteur de Montevideo
instacron:Institut Pasteur de Montevideo
Human Genomics, Vol 15, Iss 1, Pp 1-9 (2021)
Background Rare diseases are pathologies that affect less than 1 in 2000 people. They are difficult to diagnose due to their low frequency and their often highly heterogeneous symptoms. Rare diseases have in general a high impact on the quality of li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c632bb971b3d35bf844d71d6c764c97
https://doi.org/10.1186/s40246-021-00328-1
https://doi.org/10.1186/s40246-021-00328-1
Publikováno v:
Pediatric Neurology. 45:125-128
Locked-in syndrome is a rare disorder in childhood. It resembles brain death, but patients are fully conscious, and incapable of communicating because of the complete paralysis of voluntary muscles. Although it can be caused by Guillain-Barré syndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::008cfc2bbcef8a58a9047f81a1bdbf23
https://doi.org/10.1016/j.pediatrneurol.2011.03.005
https://doi.org/10.1016/j.pediatrneurol.2011.03.005
Autor:
Pedro Schestatsky, Gonzalo Barraza, Jordi Casanova-Molla, Carlos David Castillo, Josep Valls-Solé, Conrado Medici, Merche Morales
Publikováno v:
PainReferences. 154(10)
The assessment of functional deficits in small fibre neuropathies (SFN) requires using ancillary tests other than conventional neurophysiological techniques. One of the tests with most widespread use is thermal threshold determination, as part of qua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9460e026c5642cdf64a6753e8be503a
https://pubmed.ncbi.nlm.nih.gov/23806653
https://pubmed.ncbi.nlm.nih.gov/23806653
Autor:
Aída Lemes, Gabriel Gonzalez, Virginia Pedemonte, Conrado Medici, Claudio Varacchi, Nenad Blau, Alfredo Cerisola
Publikováno v:
Journal of child neurology. 28(11)
Phenylketonuria is a treatable inborn error of amino acid metabolism caused by deficiency of the enzyme phenylalanine hydroxylase, responsible for converting phenylalanine to tyrosine. We report a 10-month-old boy with psychomotor regression and infa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adebeffe23b4281847403836e2319933
https://pubmed.ncbi.nlm.nih.gov/22965559
https://pubmed.ncbi.nlm.nih.gov/22965559
Publikováno v:
Pediatric Neurology. 46:264-265
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e0a1d27f61e626ea0919be25c2f6d0f
https://doi.org/10.1016/j.pediatrneurol.2012.02.014
https://doi.org/10.1016/j.pediatrneurol.2012.02.014
Autor:
Juan Arbiza, Ivonne Rubio, S. Frabacille, C. Crapucceti, Martín Masner, A. Matiauda, M.J. Sarachaga, Conrado Medici
Publikováno v:
Paediatric Respiratory Reviews. 11:S86
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e9a6f025739b07f617c7be64b0fad3b7
https://doi.org/10.1016/s1526-0542(10)70101-9
https://doi.org/10.1016/s1526-0542(10)70101-9