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JIMD Reports
|
February 23, 2013
Utility of rare disease registries in latin america
Ana Maria Martins, Marcelo Kerstenezky, Adriana Linares, et al.
Molecular Genetics and Metabolism Reports
|
November 9, 2020
Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype
Robert J Hopkin, Ulla Feldt-Rasmussen, Dominique P Germain, et al.
Molecular Genetics and Metabolism
|
March 14, 2018
Fabry disease revisited: Management and treatment recommendations for adult patients
Alberto Ortiz, Dominique P Germain, Robert J Desnick, et al.
Clinical Kidney Journal
|
February 13, 2019
Early decrease in the podocalyxin to synaptopodin ratio in urinary Fabry podocytes
Hernán Trimarchi, Romina Canzonieri, Cristian Costales-Collaguazo, et al.
Journal of Nephrology
|
February 5, 2016
Podocyturia is significantly elevated in untreated vs treated Fabry adult patients
Hernán Trimarchi, Romina Canzonieri, Amalia Schiel, et al.
Frontiers in Medicine
|
September 20, 2023
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
Daniel G Bichet, Robert J Hopkin, Patrício Aguiar, et al.
Medicina
|
December 12, 2024
[Monogenic obesity: pathophysiology, diagnosis and treatment]
María E Andrés, Marisa Armeno, Elizabeth Alonso, et al.
Molecular Genetics and Metabolism Reports
|
March 7, 2020
Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America
MarthaL Solano, Alejandro Fainboim, Juan Politei, et al.
International Journal of Nephrology
|
May 20, 2017
Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease
Hernán Trimarchi, Romina Canzonieri, Amalia Schiel, et al.
Molecular Genetics and Metabolism Reports
|
April 25, 2025
Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards
Roberto Giugliani, Juan Politei, Ana Martins, et al.
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of 4
Search research articles
Search
Showing results (21-30 of 36) with videos related to
Sort By:
Page
of 4
JIMD Reports
|
February 23, 2013
Utility of rare disease registries in latin america
Ana Maria Martins, Marcelo Kerstenezky, Adriana Linares, et al.
Molecular Genetics and Metabolism Reports
|
November 9, 2020
Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype
Robert J Hopkin, Ulla Feldt-Rasmussen, Dominique P Germain, et al.
Molecular Genetics and Metabolism
|
March 14, 2018
Fabry disease revisited: Management and treatment recommendations for adult patients
Alberto Ortiz, Dominique P Germain, Robert J Desnick, et al.
Clinical Kidney Journal
|
February 13, 2019
Early decrease in the podocalyxin to synaptopodin ratio in urinary Fabry podocytes
Hernán Trimarchi, Romina Canzonieri, Cristian Costales-Collaguazo, et al.
Journal of Nephrology
|
February 5, 2016
Podocyturia is significantly elevated in untreated vs treated Fabry adult patients
Hernán Trimarchi, Romina Canzonieri, Amalia Schiel, et al.
Frontiers in Medicine
|
September 20, 2023
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
Daniel G Bichet, Robert J Hopkin, Patrício Aguiar, et al.
Medicina
|
December 12, 2024
[Monogenic obesity: pathophysiology, diagnosis and treatment]
María E Andrés, Marisa Armeno, Elizabeth Alonso, et al.
Molecular Genetics and Metabolism Reports
|
March 7, 2020
Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America
MarthaL Solano, Alejandro Fainboim, Juan Politei, et al.
International Journal of Nephrology
|
May 20, 2017
Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease
Hernán Trimarchi, Romina Canzonieri, Amalia Schiel, et al.
Molecular Genetics and Metabolism Reports
|
April 25, 2025
Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards
Roberto Giugliani, Juan Politei, Ana Martins, et al.
Page
of 4