Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
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The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastatCase study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro.Pseudoxanthoma elasticumLentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34+ Cells for Correction of Fabry DiseaseOral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.Enzyme replacement therapy and beyond-in memoriam Roscoe O. Brady, M.D. (1923-2016).The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense MutationsRecent advances and novel treatments for sphingolipidoses.Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease.Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C diseaseRare Diseases: Drug Discovery and Informatics Resource.Pharmacochaperoning in a Drosophila model system rescues human dopamine transporter variants associated with infantile/juvenile parkinsonism.Relax, Cool Down and Scaffold: How to Restore Surface Expression of Folding-Deficient Mutant GPCRs and SLC6 Transporters.Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment.E-Learning for Rare Diseases: An Example Using Fabry Disease.Pharmacological Chaperones as Potential Therapeutic Strategies for Misfolded Mutant Vasopressin Receptors.Lipid biomarkers for the peroxisomal and lysosomal disorders: their formation, metabolism and measurement.High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB.Pathomechanisms of renal Fabry disease.Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases.Ventricular arrhythmia and sudden cardiac death in Fabry disease: a systematic review of risk factors in clinical practice.Lucerastat, an Iminosugar for Substrate Reduction Therapy: Tolerability, Pharmacodynamics, and Pharmacokinetics in Patients With Fabry Disease on Enzyme Replacement.Types A and B Niemann-Pick disease.Fabry disease in the Spanish population: observational study with detection of 77 patients.Variable phenotypic presentations of renal involvement in Fabry disease: a case series.Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.Cardiac Phenotype of Prehypertrophic Fabry Disease.Anderson-Fabry disease in heart failureFabry disease in a Japanese population-molecular and biochemical characteristicsOxidative stress and the altered reaction to it in Fabry disease: A possible target for cardiovascular-renal remodeling?Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types
P2860
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P2860
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh
2016年學術文章
@zh-hant
name
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
@en
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
@nl
type
label
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
@en
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
@nl
prefLabel
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
@en
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
@nl
P2093
P50
P356
P1476
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
@en
P2093
Ahmad Tuffaha
Ana Jovanovic
C Ronald Scott
Carrolee Barlow
Charles M Lourenco
Christopher Viereck
David Finegold
David J Lockhart
Drago Bratkovic
Elfrida R Benjamin
P304
P356
10.1056/NEJMOA1510198
P407
P577
2016-08-01T00:00:00Z