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Tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb3 isoforms in Fabry disease patients

  • Published:2016-01 Issue: Volume:452 Page:191-198
  • ISSN:0009-8981
  • Container-title:Clinica Chimica Acta
  • language:en
  • Short-container-title:Clinica Chimica Acta

Author:

Abaoui Mona,Boutin Michel,Lavoie Pamela,Auray-Blais Christiane

Funder

Canadian Institutes of Health Research (CIHR)

Waters Corporation

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference40 articles.

1. Lysosomal storage diseases: from pathophysiology to therapy;Parenti;Annu. Rev. Med.,2015

2. Narrative review: Fabry disease;Clarke;Ann. Intern. Med.,2007

3. HGMD. Human gene mutation database. http://www.hgmd.org/. (Updated 2014).

4. Prevalence of symptoms in female Fabry disease patients: a case–control survey;Bouwman;J. Inherit. Metab. Dis.,2012

5. Active-site-specific chaperone therapy for Fabry disease. yin and yang of enzyme inhibitors;Fan;FEBS J.,2007
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