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Juan Politei

Showing results (11-20 of 36) with videos related to

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Advances in Therapy|August 23, 2019
Symptoms and Quality of Life in Patients with Fabry Disease: Results from an International Patient SurveyOlivier Morand, Jack Johnson, Jerry Walter, et al.
Molecular Genetics and Metabolism Reports|December 13, 2021
Fabry Disease Patient-Reported Outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry diseaseAlaa Hamed, Pronabesh DasMahapatra, Nicole Lyn, et al.
JIMD Reports|August 9, 2019
Prevalence of Fabry disease in male dialysis patients: Argentinean screening studyJoaquín Frabasil, Consuelo Durand, Silvia Sokn, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation studyChristoph Wanner, Virginia Kimonis, Juan Politei, et al.
JIMD Reports|March 17, 2021
Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomesJuan Politei, Gloria Liliana Porras-Hurtado, Norberto Guelbert, et al.
Orphanet Journal of Rare Diseases|August 7, 2013
Fibrosis: a key feature of Fabry disease with potential therapeutic implicationsFrank Weidemann, Maria D Sanchez-Niño, Juan Politei, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|April 1, 2018
Non-specific gastrointestinal features: Could it be Fabry disease?Max J Hilz, Eloisa Arbustini, Lorenzo Dagna, et al.
Journal of Inherited Metabolic Disease|July 4, 2024
Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysisAntonio Pisani, Kathryn M Wilson, Julie L Batista, et al.
Journal of Medical Genetics|March 13, 2020
Use of a rare disease registry for establishing phenotypic classification of previously unassigned <i>GLA</i> variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroupDominique P Germain, João Paulo Oliveira, Daniel G Bichet, et al.
Global Health, Epidemiology and Genomics|February 27, 2024
Baseline Characteristics of Fabry Disease "Amenable" Migalastat Patients in Argentinian CohortSebastián Jaurretche, Santiago Alonso, Mónica Calvo, et al.
Pageof 4

Showing results (11-20 of 36) with videos related to

Sort By:
Pageof 4
Advances in Therapy|August 23, 2019
Symptoms and Quality of Life in Patients with Fabry Disease: Results from an International Patient SurveyOlivier Morand, Jack Johnson, Jerry Walter, et al.
Molecular Genetics and Metabolism Reports|December 13, 2021
Fabry Disease Patient-Reported Outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry diseaseAlaa Hamed, Pronabesh DasMahapatra, Nicole Lyn, et al.
JIMD Reports|August 9, 2019
Prevalence of Fabry disease in male dialysis patients: Argentinean screening studyJoaquín Frabasil, Consuelo Durand, Silvia Sokn, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation studyChristoph Wanner, Virginia Kimonis, Juan Politei, et al.
JIMD Reports|March 17, 2021
Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomesJuan Politei, Gloria Liliana Porras-Hurtado, Norberto Guelbert, et al.
Orphanet Journal of Rare Diseases|August 7, 2013
Fibrosis: a key feature of Fabry disease with potential therapeutic implicationsFrank Weidemann, Maria D Sanchez-Niño, Juan Politei, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|April 1, 2018
Non-specific gastrointestinal features: Could it be Fabry disease?Max J Hilz, Eloisa Arbustini, Lorenzo Dagna, et al.
Journal of Inherited Metabolic Disease|July 4, 2024
Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysisAntonio Pisani, Kathryn M Wilson, Julie L Batista, et al.
Journal of Medical Genetics|March 13, 2020
Use of a rare disease registry for establishing phenotypic classification of previously unassigned <i>GLA</i> variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroupDominique P Germain, João Paulo Oliveira, Daniel G Bichet, et al.
Global Health, Epidemiology and Genomics|February 27, 2024
Baseline Characteristics of Fabry Disease "Amenable" Migalastat Patients in Argentinian CohortSebastián Jaurretche, Santiago Alonso, Mónica Calvo, et al.
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