Detalles de la búsqueda
1.
FABry Disease Patient-Reported Outcome-GastroIntestinal (FABPRO-GI): A new Fabry disease-specific gastrointestinal outcomes instrument.
Qual Life Res
; 30(10): 2983-2994, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-33914257
2.
Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study.
Mol Genet Metab
; 131(1-2): 219-228, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33012654
3.
Efficacy and safety of migalastat in a Japanese population: a subgroup analysis of the ATTRACT study.
Clin Exp Nephrol
; 24(2): 157-166, 2020 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-31889231
4.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
N Engl J Med
; 375(6): 545-55, 2016 Aug 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27509102
5.
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.
Genet Med
; 21(9): 1987-1997, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30723321
6.
Low frequency of Fabry disease in patients with common heart disease.
Genet Med
; 20(7): 754-759, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29227985
7.
Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.
Mol Ther
; 25(5): 1199-1208, 2017 05 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-28341561
8.
Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment.
J Med Genet
; 54(11): 781-786, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28756410
9.
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
J Med Genet
; 54(4): 288-296, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27834756
10.
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Genet Med
; 19(4): 430-438, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27657681
11.
Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study.
Am J Med Genet A
; 179(6): 1069-1073, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30920142
12.
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Muscle Nerve
; 50(4): 477-87, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25042182
13.
The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study.
Muscle Nerve
; 48(3): 357-68, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23674289
14.
The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study.
Muscle Nerve
; 48(3): 343-56, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23681930
15.
Identification of Safe and Effective Intravenous Dose of AAVrh.10hFXN to Treat the Cardiac Manifestations of Friedreich's Ataxia.
Hum Gene Ther
; 34(13-14): 605-615, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37166361
16.
Wound closure in epidermolysis bullosa: data from the vehicle arm of the phase 3 ESSENCE Study.
Orphanet J Rare Dis
; 15(1): 190, 2020 07 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-32693833
17.
Efficacy and tolerability of the investigational topical cream SD-101 (6% allantoin) in patients with epidermolysis bullosa: a phase 3, randomized, double-blind, vehicle-controlled trial (ESSENCE study).
Orphanet J Rare Dis
; 15(1): 158, 2020 06 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-32576219
18.
Pregnancy Outcome after Exposure to Migalastat for Fabry Disease: A Clinical Report.
Case Rep Obstet Gynecol
; 2019: 1030259, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31934472
19.
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.
Orphanet J Rare Dis
; 13(1): 68, 2018 04 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-29703262
20.
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.
PLoS One
; 10(8): e0134341, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26252393