Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation-Reference-Cited by-同舟云学术

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Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation

Published:2017-03 Issue: Volume:466 Page:185-193
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Auray-Blais Christiane,Lavoie Pamela,Boutin Michel,Ntwari Aimé,Hsu Ting-Rong,Huang Chun-Kai,Niu Dau-Ming

Funder

Waters Corporation

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference43 articles.

1. Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry;Kitagawa;Mol. Genet. Metab.,2005

2. Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease;Mills;J. Inherit. Metab. Dis.,2005

3. Liquid chromatography–tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy;Roddy;Clin. Chem.,2005

4. Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease;Auray-Blais;Mol. Genet. Metab.,2008

5. Elevated globotriaosylsphingosine is a hallmark of Fabry disease;Aerts;Proc. Natl. Acad. Sci. U. S. A.,2008

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1. LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method;Clinica Chimica Acta;2024-07

2. Longitudinal biomarker evaluation in Fabry disease patients receiving lentivirus-mediated gene therapy;Rare Disease and Orphan Drugs Journal;2024-06-27

3. Fabry disease biomarkers in patients switched from enzyme-replacement therapy to migalastat oral chaperone therapy;Bioanalysis;2023-12

4. Sex Differences in Anderson–Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women;Genes;2023-09-15

5. Metabolomic Studies in Inborn Errors of Metabolism: Last Years and Future Perspectives;Metabolites;2023-03-18

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