Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Margarita Halty"'
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:
Mariana Dufort, Mariana Seija, Rossana Astesiano, José Santiago, Federico Yandian, Margarita Halty, Anabella Rebori, Solange Gerona, Óscar Noboa, Marcelo Nin
Publikováno v:
Nefrología Latinoamericana, Vol 19, Iss 2 (2022)
La hiperoxaluria primaria (HOP) es una enfermedad hereditaria autosómica recesiva del metabolismo del glioxalato, con sobreproducción de oxalato, hiperoxaluria, depósito de oxalato de calcio en varios órganos, litiasis y nefrocalcinosis. El trasp
Externí odkaz:
https://doaj.org/article/17d5fcff949441f482ca8beb02cc1b3b
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
Autor:
Milka Bengochea, Liliana Gadola, Francisco González-Martínez, María Carlota González-Bedat, Pablo Ríos, Liliana Chifflet, Raúl Lombardi, Oscar Noboa, R. Mizraji, Alejandro Ferreiro, Laura Solá, Margarita Halty, Sergio Orihuela, Anabella Rebori
Publikováno v:
Nephrology Worldwide ISBN: 9783030568894
Uruguay (Republica Oriental del Uruguay) is a South American country (3,505,985 inhabitants, area of 176,215 Km2) where renal replacement therapy for end-stage renal disease has been available for the entire population since 1980. The National Kidney
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa0badbc22c0d1fde2b0a3b8e1e9579e
https://doi.org/10.1007/978-3-030-56890-0_16
https://doi.org/10.1007/978-3-030-56890-0_16
Autor:
Deborah R. Stein, Weizhen Tan, Amar J. Majmundar, Richard P. Lifton, David Schapiro, Daniela A. Braun, Jan Halbritter, Christian Hanna, John A. Sayer, Margarita Halty, Avram Z. Traum, Sherif M. El-Desoky, Velibor Tasic, Shrikant Mane, Friedhelm Hildebrandt, Asaf Vivante, Michelle A. Baum, Shirlee Shril, Seema Hashmi, Michael A. J. Ferguson, Zoran Gucev, Caleb P. Nelson, Avi Katz, Ghaleb Daouk, Heon Yung Gee, Neveen A. Soliman, Tilman Jobst-Schwan, Michael J. Somers, Eugen Widmeier, Danko Milosevic, Ari J. Wassner, Jameela A. Kari, Hanan M. Fathy, Ankana Daga, Andrew L. Schwaderer, Jennifer A. Lawson, Jillian K. Warejko, Nancy Rodig
Publikováno v:
Kidney International. 93:204-213
The incidence of nephrolithiasis continues to rise. Previously, we showed that a monogenic cause could be detected in 11.4% of individuals with adult-onset nephrolithiasis or nephrocalcinosis and in 16.7-20.8% of individuals with onset before 18 year
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e987723df394e7715c11a2d25782a335
https://doi.org/10.1016/j.kint.2017.06.025
https://doi.org/10.1016/j.kint.2017.06.025