Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. - Wikidata - awgldk - TriplyDB

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

http://www.wikidata.org/entity/Q53843470

about

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat Case study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro.Pseudoxanthoma elasticum Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34+ Cells for Correction of Fabry Disease Oral 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 Mutations Recent 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 disease Rare 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 failure Fabry disease in a Japanese population-molecular and biochemical characteristics Oxidative 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

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P2860

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

http://www.wikidata.org/entity/Q53843470

description

2016 nî lūn-bûn

@nan

2016年の論文

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2016年学术文章

@wuu

2016年学术文章

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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

P1433

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P1433

The New England Journal of Medicine

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Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

@en

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Ahmad Tuffaha

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Ana Jovanovic

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C Ronald Scott

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Carrolee Barlow

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Charles M Lourenco

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Christopher Viereck

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David Finegold

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David J Lockhart

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Drago Bratkovic

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Elfrida R Benjamin

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545-555

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scholarly article

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10.1056/NEJMOA1510198

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6

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375

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Derralynn A Hughes

Claudio Feliciani

Dominique P Germain

Daniel-G. Bichet

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2016-08-01T00:00:00Z

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27509102

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molecular chaperones