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

Humans Glycogen Storage Disease Type II / diagnosis Creatinine Urine Specimen Collection Reproducibility of Results Mass Spectrometry Chromatography, Liquid / methods

Journal

Analytical methods : advancing methods and applications
ISSN: 1759-9679
Titre abrégé: Anal Methods
Pays: England
ID NLM: 101519733

Informations de publication

Date de publication:
17 08 2023
Historique:
medline: 21 8 2023
pubmed: 4 8 2023
entrez: 4 8 2023
Statut: epublish

Résumé

Pompe disease (PD) is an inborn error of metabolism caused by α-glucosidase acid enzyme deficiency. It significantly impacts patients' health and life quality and may lead to death in the first few years of life. Among the well-established diagnostic methods, urinary glucose tetrasaccharide (Glc

Identifiants

DOI: 10.1039/d3ay00587a PMID: 37539791
pubmed: 37539791
doi: 10.1039/d3ay00587a
doi:

Substances chimiques

Creatinine AYI8EX34EU

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

3932-3939

Auteurs

Hygor M R de Souza (HMR)

Federal University of Rio de Janeiro, Institute of Chemistry, Metabolomics Laboratory, Rio de Janeiro 21941-598, RJ, Brazil.
Fluminense Federal University, Institute of Chemistry, Department of Analytical Chemistry, Laboratory of Fundamental and Applied Analytical Chemistry, Niterói 24020-141, RJ, Brazil. flaviamarques@id.uff.br.
ORCID: 0009-0005-1358-1689

Fernanda B Scalco (FB)

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

Rafael Garrett (R)

Federal University of Rio de Janeiro, Institute of Chemistry, Metabolomics Laboratory, Rio de Janeiro 21941-598, RJ, Brazil.
ORCID: 0000-0002-5823-311X

Flávia F de C Marques (FF)

Fluminense Federal University, Institute of Chemistry, Department of Analytical Chemistry, Laboratory of Fundamental and Applied Analytical Chemistry, Niterói 24020-141, RJ, Brazil. flaviamarques@id.uff.br.
ORCID: 0000-0003-4243-7780

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Development of a kit for urine collection on...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Maladies lysosomiales › Maladies neurologiques de surcharge lysosomiale › Glycogénose de type II › Development of a kit for urine collection on...
questionsmedicales.fr › Composés hétérocycliques › Composés hétéromonocycliques › Azoles › Imidazoles › Créatinine › Development of a kit for urine collection on...
questionsmedicales.fr › Techniques d'investigation › Techniques de laboratoire clinique › Manipulation d'échantillons › Prélèvement d'échantillon d'urine › Development of a kit for urine collection on...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Méthodologie en recherche épidémiologique › Reproductibilité des résultats › Development of a kit for urine collection on...
questionsmedicales.fr › Techniques d'investigation › Techniques de chimie analytique › Spectrométrie de masse › Development of a kit for urine collection on...
questionsmedicales.fr › Techniques d'investigation › Techniques de chimie analytique › Chromatographie › Chromatographie en phase liquide › Development of a kit for urine collection on...