Detalles de la búsqueda
1.
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry.
Mol Genet Metab
; 138(2): 106967, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36709533
2.
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study.
Mol Genet Metab
; 138(2): 106963, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36481125
3.
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.
Mol Genet Metab
; 139(3): 107603, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37236007
4.
An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.
Mol Genet Metab
; 137(1-2): 49-61, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35926321
5.
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
Clin Genet
; 101(4): 390-402, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34927718
6.
Diagnosis and Management of Cardiovascular Involvement in Fabry Disease.
Heart Fail Clin
; 18(1): 39-49, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34776082
7.
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
J Med Genet
; 57(8): 542-551, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32161151
8.
IN VIVO OBSERVATION OF RETINAL VASCULAR DEPOSITS USING ADAPTIVE OPTICS IMAGING IN FABRY DISEASE.
Retina
; 40(8): 1623-1629, 2020 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-31568064
9.
Reconceptualizing podocyte damage in Fabry disease: new findings identify α-synuclein as a putative therapeutic target.
Kidney Int
; 105(2): 237-239, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37714429
10.
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
11.
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
12.
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Genet Med
; 21(9): 2081-2091, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30837697
13.
The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts.
Mol Genet Metab
; 126(3): 212-223, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29785937
14.
The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts.
Mol Genet Metab
; 126(3): 224-235, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30413388
15.
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.
Clin Genet
; 96(2): 107-117, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30941742
16.
Fabry disease revisited: Management and treatment recommendations for adult patients.
Mol Genet Metab
; 123(4): 416-427, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29530533
17.
European expert consensus statement on therapeutic goals in Fabry disease.
Mol Genet Metab
; 124(3): 189-203, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30017653
18.
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
19.
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.
Genet Med
; 19(8): 909-917, 2017 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-28102862
20.
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