Detalles de la búsqueda
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
Glucosylceramide and Glucosylsphingosine Quantitation by Liquid Chromatography-Tandem Mass Spectrometry to Enable In Vivo Preclinical Studies of Neuronopathic Gaucher Disease.
Anal Chem
; 89(16): 8288-8295, 2017 08 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-28686011
8.
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
9.
Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice.
Mol Ther
; 23(7): 1169-1181, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25915924
10.
Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).
J Neurol
; 271(4): 1787-1801, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38057636
11.
Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry mice.
Mol Ther
; 20(4): 717-26, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22215019
12.
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
Hum Mutat
; 32(8): 965-77, 2011 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-21598360
13.
Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry mice.
J Lipid Res
; 52(9): 1742-6, 2011 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-21747096
14.
The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.
Mol Ther
; 18(1): 23-33, 2010 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-19773742
15.
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
Hum Mutat
; 30(12): 1683-92, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19862843
16.
State-dependent compound inhibition of Nav1.2 sodium channels using the FLIPR Vm dye: on-target and off-target effects of diverse pharmacological agents.
J Biomol Screen
; 11(1): 29-39, 2006 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-16234337
17.
Pharmacological characterization of recombinant N-type calcium channel (Cav2.2) mediated calcium mobilization using FLIPR.
Biochem Pharmacol
; 72(6): 770-82, 2006 Sep 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-16844100
18.
Validation of a fluorescent imaging plate reader membrane potential assay for high-throughput screening of glycine transporter modulators.
J Biomol Screen
; 10(4): 365-73, 2005 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-15964938
19.
A miniaturized column chromatography method for measuring receptor-mediated inositol phosphate accumulation.
J Biomol Screen
; 9(4): 343-53, 2004 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-15191651
20.
The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease.
Mol Genet Metab Rep
; 20: 100494, 2019 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-31367522