Plasma globotriaosylsphingosine as a biomarker of Fabry disease. - Wikidata - wikimedia - TriplyDB

Plasma globotriaosylsphingosine as a biomarker of Fabry disease.

Plasma globotriaosylsphingosine as a biomarker of Fabry disease.

http://www.wikidata.org/entity/Q43090144

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Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?Efficacy and safety of enzyme-replacement-therapy with agalsidase alfa in 36 treatment-naïve Fabry disease patients.Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease Depletion of globosides and isoglobosides fully reverts the morphologic phenotype of Fabry disease Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.Update on role of agalsidase alfa in management of Fabry disease.Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease.Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene Efficient uptake of recombinant α-galactosidase A produced with a gene-manipulated yeast by Fabry mice kidneys Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease.Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry disease Effect of reduced agalsidase Beta dosage in fabry patients: the Australian experience Identification of a novel GLA mutation (F69 L) in a Japanese patient with late-onset Fabry disease.Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine.Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.Analysis of lyso-globotriaosylsphingosine in dried blood spots.Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.Fabry disease: experience of screening dialysis patients for Fabry disease.Fabry's disease: an example of cardiorenal syndrome type 5.Globotriaosylsphingosine induces oxidative DNA damage in cultured kidney cells.Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features.Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now.Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study.Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment.Clinical-Pathological Conference Series from the Medical University of Graz : Case No 153: A 55-year-old woman with atypical multiple sclerosis and irritable bowel syndrome.Lipid biomarkers for the peroxisomal and lysosomal disorders: their formation, metabolism and measurement.Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy.Gender-specific plasma proteomic biomarkers in patients with Anderson-Fabry disease.

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Plasma globotriaosylsphingosine as a biomarker of Fabry disease.

http://www.wikidata.org/entity/Q43090144

description

2010 nî lūn-bûn

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2010年の論文

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年學術文章

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2010年學術文章

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name

Plasma globotriaosylsphingosine as a biomarker of Fabry disease.

@en

Plasma globotriaosylsphingosine as a biomarker of Fabry disease.

@nl

type

label

Plasma globotriaosylsphingosine as a biomarker of Fabry disease.

@en

Plasma globotriaosylsphingosine as a biomarker of Fabry disease.

@nl

prefLabel

Plasma globotriaosylsphingosine as a biomarker of Fabry disease.

@en

Plasma globotriaosylsphingosine as a biomarker of Fabry disease.

@nl

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J.YMGME.2010.03.020

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Molecular Genetics and Metabolism

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Plasma globotriaosylsphingosine as a biomarker of Fabry disease.

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Hitoshi Sakuraba

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Kanako Sugawara

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Ken Suzuki

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Nobuyuki Ishige

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Tadayasu Togawa

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Takahiro Tsukimura

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Takashi Kodama

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Teruo Kitagawa

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Toshihiro Suzuki

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Toya Ohashi

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257-261

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scholarly article

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20409739

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