High‐Risk Screening of Fabry Disease: Analysis of Fifteen Urinary Methylated and Non‐Methylated Gb 3 Isoforms Using Tandem Mass Spectrometry-Reference-Cited by-同舟云学术

High‐Risk Screening of Fabry Disease: Analysis of Fifteen Urinary Methylated and Non‐Methylated Gb 3 Isoforms Using Tandem Mass Spectrometry

Published:2016-10 Issue:1 Volume:91 Page:
ISSN:1934-8266
Container-title:Current Protocols in Human Genetics
language:en
Short-container-title:Current Protocols in Human Genetics

Author:

Abaoui Mona¹,Boutin Michel¹,Lavoie Pamela¹,Auray‐Blais Christiane¹

Affiliation:

1. Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Centre de Recherche–CHUS Sherbrooke Quebec Canada

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/cphg.24

Reference17 articles.

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

2. Elevated globotriaosylsphingosine is a hallmark of Fabry disease

3. Novel Gb3 Isoforms Detected in Urine of Fabry Disease Patients: A Metabolomic Study

4. Urinary Globotriaosylsphingosine-Related Biomarkers for Fabry Disease Targeted by Metabolomics

5. Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry

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3. Metabolic Fingerprinting of Fabry Disease: Diagnostic and Prognostic Aspects;Metabolites;2022-07-28