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1.
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.
J Med Genet
; 60(7): 722-731, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36543533
2.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
J Med Genet
; 2023 Nov 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37940383
3.
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
4.
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
5.
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
6.
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post-analytical tools.
Am J Med Genet C Semin Med Genet
; 190(2): 178-186, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36097743
7.
Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes.
Am J Med Genet C Semin Med Genet
; 190(2): 187-196, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36164257
8.
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genet Med
; 24(6): 1227-1237, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35300924
9.
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
Genet Med
; 24(12): 2444-2452, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36107167
10.
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.
Lancet
; 396(10252): 684-692, 2020 09 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32891212
11.
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.
Genet Med
; 23(12): 2443-2447, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34341520
12.
Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease.
Mol Genet Metab
; 134(1-2): 20-28, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34602357
13.
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
14.
De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.
Hum Mutat
; 40(12): 2393-2413, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31429998
15.
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
16.
Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study.
J Pediatr
; 209: 116-124.e4, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30979546
17.
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
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.
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
20.
The management and treatment of children with Fabry disease: A United States-based perspective.
Mol Genet Metab
; 117(2): 104-13, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26546059