Suchergebnisse - "Politei, Juan"

PubPharm (109)

1

Baseline Characteristics of Fabry Disease "Amenable" Migalastat Patients in Argentinian Cohort

enthalten in: Global health, epidemiology and genomics | 2024

von Jaurretche, S. | Alonso, S. | Calvo, M. | +10

2

Global reach of over 20 years of experience in the patient-centered Fabry Registry : Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community

enthalten in: Molecular genetics and metabolism | 2023

von Wanner, C. | Ortiz, A. | Wilcox, W. | +14

3

Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat : a modified Delphi study

enthalten in: Frontiers in medicine | 2023

von Bichet, D. | Hopkin, R. | Aguiar, P. | +13

4

Understanding and modifying Fabry disease : Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study

enthalten in: Molecular genetics and metabolism reports | 2022

von Wanner, C. | Kimonis, V. | Politei, J. | +5

5

Fabry Disease Patient-Reported Outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease

enthalten in: Molecular genetics and metabolism reports | 2021

von Hamed, A. | DasMahapatra, P. | Lyn, N. | +5

6

The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease

enthalten in: Molecular genetics & genomic medicine | 2021

von Germain, D. | Moiseev, S. | Suárez-Obando, F. | +16

7

Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes

enthalten in: JIMD reports | 2021

von Politei, J. | Porras-Hurtado, G. | Guelbert, N. | +3

8

Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes

enthalten in: JIMD Reports | 2021

von Politei, J. | Porras‐Hurtado, G. | Guelbert, N. | +3

9

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

enthalten in: Molecular Genetics & Genomic Medicine | 2021

von Germain, D. | Moiseev, S. | Suárez‐Obando, F. | +16

10

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

enthalten in: Molecular genetics and metabolism reports | 2020

von Hopkin, R. | Feldt-Rasmussen, U. | Germain, D. | +10

1
2
3
4
5
6
7
8
9
10
11
Nächster »
[11]