Výsledky vyhledávání - "Jacobo, Villalobos"

Akademický článek

Genotype-Phenotype Variations of Renal Complications in Fabry Disease Q279X Mutation

Autor: Jacobo Villalobos, Carmen C. García, Juan Politei, Joaquin Frabasil, Virginia Colina

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)

Abstract In more than 800 GLA gene mutations causing Fabry Disease (FD), renal involvement vary according to the α-GAL A mutation. The aim is to describe the genotype/phenotype variations of renal complications in two siblings with confirmed FD with

Externí odkaz: https://doaj.org/article/921f2f754639477fbee49b4efdff0775

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Akademický článek

Guidelines to start enzyme replacement therapy in classic Fabry Disease patients in Latin America

Autor: Juan Manuel Politei, Hugo Abensur, Norberto Antongiovanni, Diego Bar, Luis Barros, Joseph Brooks, Gustavo Cabrera, Kenneth Carazo, Alberto Ciceran, Wilfredo Cortés, Sonia De Maio, Juan Díaz Salvia, Karen Dublán García, Consuelo Durand, Víctor Espín, Alejandro Fainboim, Adrián Fernández, Sergio Figueroa, Macarena Franco, Griselda Gómez, Michel Gurdet, Ricardo Heguilén, Javier Ibarra, Sebastián Jaurretche, Georgina Loyola Rodríguez, Paula Luna, Ana Martins, Fernando Molt, Sandra Moraga Nuñez, Giselle Myer, Juana Navarrete, Juan Pérez García, Luis Pineda Galindo, Carla Postigo, Juan Prieto, Diego Ripeau, Gabriela Salas Pérez, Azucena Sánchez, Hargoon Santami, Andrea Schenone, Graciela Serebrinsky, Fátima Sierra, José Sobral, Lura Titievsky, Hernán Trimarchi, Guillermo Valadez, Carmen Varas Mundaca, Víctor Velazcor, Valeria Veloso, Jacobo Villalobos Jacobo

Publikováno v: Revista de Nefrología, Diálisis y Trasplante, Vol 37, Iss 1, Pp 21-28 (2017)

Introduction: Fabry disease is a rare inherited X-linked disorder resulting from the absence or deficient activity of the α-galactosidase A enzyme. Objetive: To provide the first guideline on the best time to start enzyme replacement therapy to trea

Externí odkaz: https://doaj.org/article/64cb5f483e6146c5828da9ad6804f53e

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La relación médico-paciente en tiempos de COVID-19. ¿Un cambio de paradigma?

Autor: Jacobo Villalobos, Nicolina Calvanese

Publikováno v: Revista médica de Chile v.149 n.7 2021
SciELO Chile
CONICYT Chile
instacron:CONICYT

Doctor-patient relationship (DPR) is the cornerstone of clinical medicine, mobilizing powerful human resources. This article analyzes the impact of COVID-19 pandemia on DPR. Due to fear of contagion, the use of telephone or digital consultation was p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::510cf424ce1c6ba06159ce6133e2b44a
https://doi.org/10.4067/s0034-98872021000701070

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[The impact of COVID-19 pandemic on doctor-patient relationship]

Autor: Jacobo, Villalobos, Nicolina, Calvanese

Publikováno v: Revista medica de Chile. 149(7)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0e06d751825aaa5dd1270d479e19b3ee
https://pubmed.ncbi.nlm.nih.gov/34751309

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Genotype-Phenotype Variations of Renal Complications in Fabry Disease Q279X Mutation

Autor: Carmen C. Garcia, Joaquin Frabasil, Juan Politei, Virginia Leticia Colina, Jacobo Villalobos

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Journal of Inborn Errors of Metabolism and Screening v.8 2020
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 8, Article number: e20200007, Published: 11 NOV 2020

In more than 800 GLA gene mutations causing Fabry Disease (FD), renal involvement vary according to the α-GAL A mutation. The aim is to describe the genotype/phenotype variations of renal complications in two siblings with confirmed FD with the muta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc7fe14cd0146b94e3a36895ccd9e81b
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100306&tlng=en

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Enfermedad de Gaucher en Latinoamérica: Un informe del Registro Internacional y del Grupo Latinoamericano para la Enfermedad de Gaucher

Autor: Guillermo Drelichman, Adriana Linares, Jacobo Villalobos, Juan Francisco Cabello, Marcelo Kerstenetzky, Regina M. Kohan, Ana María Martins

Publikováno v: Medicina (Buenos Aires), Vol 72, Iss 4, Pp 273-282 (2012)

La enfermedad de Gaucher, por su escasa frecuencia, está incluida dentro de las llamadas enfermedades huérfanas. En 1991 se creó el Registro Internacional de Gaucher y en 1992 se incorporaron los primeros pacientes de Latinoamérica. En el año 20

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doajarticles::72468ed70e6b5553ee7497123ea5a159
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802012000400001&lng=en&tlng=en

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Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

Autor: J. Alexander Cole, Carla E. M. Hollak, Marcelo Kerstenetzky, Joel Charrow, Neal J. Weinreb, Jacobo Villalobos, Stephan vom Dahl, Jack Goldblatt

Publikováno v: Journal of inherited metabolic disease, 36(3), 543-553. Springer Netherlands
Journal of Inherited Metabolic Disease

Objective We studied the effect of long-term alglucerase/imiglucerase (Ceredase®/Cerezyme®, Genzyme, a Sanofi company, Cambridge, MA, USA) treatment on hematological, visceral, and bone manifestations of Gaucher disease type 1 (GD1). Methods The In

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa1f3b16060d259fedbda99b3c13ea7e
https://pure.amc.nl/en/publications/longterm-clinical-outcomes-in-type-1-gaucher-disease-following-10-years-of-imiglucerase-treatment(49b67462-c86e-4776-8c12-a3841e7cfd76).html

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[Gaucher disease in Latin America. A report from the Gaucher Disease International Registry and the Latin American Group for Gaucher Disease]

Autor: Guillermo, Drelichman, Adriana, Linares, Jacobo, Villalobos, Juan Francisco, Cabello, Marcelo, Kerstenetzky, Regina M, Kohan, Ana María, Martins

Publikováno v: Medicina. 72(4)

Gaucher disease -due to its low frequency- is considered an orphan disease. In 1991 the International Gaucher Registry was created and in 1992 the first patients from Latin America were enrolled. In 2008 the Latin American Group for Gaucher Disease w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::704c40b76e8086746a6c4f5ff68bc7d6
https://pubmed.ncbi.nlm.nih.gov/22892077

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Fabry Disease in Latin America: Data from the Fabry Registry

Autor: C. Varas, S. Suarez Ordoñez, G. Cabrera, Jacobo Villalobos, Ana Maria Martins, H. Amartino, J. M. Politei, Roberta Lemay, Sandra Ospina

Publikováno v: JIMD Reports ISBN: 9783642334320

The purpose of these analyses was to characterize demographic and baseline clinical characteristics of Latin American patients with Fabry disease compared to that of patients in the rest of the world. Observational data reported to the Fabry Registry

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7c0ee75806f4b99e957ccc8f116adbc
https://doi.org/10.1007/8904_2012_165

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