Development of a kit for urine collection on filter paper as an alternative for Pompe disease screening and monitoring by LC-HRMS-Reference-Cited by-同舟云学术

Development of a kit for urine collection on filter paper as an alternative for Pompe disease screening and monitoring by LC-HRMS

Published:2023 Issue:32 Volume:15 Page:3932-3939
ISSN:1759-9660
Container-title:Analytical Methods
language:en
Short-container-title:Anal. Methods

Author:

de Souza Hygor M. R.¹²^ORCID,Scalco Fernanda B.³,Garrett Rafael¹^ORCID,de C. Marques Flávia F.²^ORCID

Affiliation:

1. Federal University of Rio de Janeiro, Institute of Chemistry, Metabolomics Laboratory, Rio de Janeiro 21941-598, RJ, Brazil

2. Fluminense Federal University, Institute of Chemistry, Department of Analytical Chemistry, Laboratory of Fundamental and Applied Analytical Chemistry, Niterói 24020-141, RJ, Brazil

3. Federal University of Rio de Janeiro, Institute of Chemistry, Inborn Error of Metabolism Laboratory, Rio de Janeiro 21941-598, RJ, Brazil

Abstract

This work reports the validation and application of a method for determination of glucose tetrasaccharide (Glc4) in urine collected on filter paper for monitoring Pompe disease patients.

Funder

Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Publisher

Royal Society of Chemistry (RSC)

Subject

General Engineering,General Chemical Engineering,Analytical Chemistry

Link

http://pubs.rsc.org/en/content/articlepdf/2023/AY/D3AY00587A

Reference34 articles.

1. Pompe disease: from pathophysiology to therapy and back again

2. The natural course of non–classic Pompe’s disease; a review of 225 published cases

3. Newborn Screening for Pompe Disease

4. Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases

5. Pompe disease diagnosis and management guideline

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