Analysis of Globotriaosylceramide (Gb

Humans Tandem Mass Spectrometry / methods Trihexosylceramides / urine Chromatography, High Pressure Liquid / methods Fabry Disease / urine Creatinine / urine
Fabry disease Gb3 UHPLC‐MS/MS creatinine globotriaosylceramide mass spectrometry

Journal

Current protocols
ISSN: 2691-1299
Titre abrégé: Curr Protoc
Pays: United States
ID NLM: 101773894

Informations de publication

Date de publication:
Jun 2024
Historique:
medline: 19 6 2024
pubmed: 19 6 2024
entrez: 19 6 2024
Statut: ppublish

Résumé

Fabry disease (FD) is a lysosomal storage disorder caused by variants in the GLA gene encoding α-galactosidase A, an enzyme required for catabolism of globotriaosylceramide (Gb

Identifiants

DOI: 10.1002/cpz1.1087 PMID: 38896100
pubmed: 38896100
doi: 10.1002/cpz1.1087
doi:

Substances chimiques

globotriaosylceramide 71965-57-6
Trihexosylceramides 0
Creatinine AYI8EX34EU

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

e1087

Informations de copyright

© 2024 The Author(s). Current Protocols published by Wiley Periodicals LLC.

Auteurs

Michel Boutin (M)

Division of Medical Genetics, Department of Laboratory Medicine, CIUSSS de l'Estrie-CHUS, Sherbrooke, Quebec, Canada.
Department of Pediatrics, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
ORCID: 0000-0001-6289-1839

Bruno Maranda (B)

Division of Medical Genetics, Department of Laboratory Medicine, CIUSSS de l'Estrie-CHUS, Sherbrooke, Quebec, Canada.
Department of Pediatrics, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
ORCID: 0000-0002-6685-600X

Paula J Waters (PJ)

Division of Medical Genetics, Department of Laboratory Medicine, CIUSSS de l'Estrie-CHUS, Sherbrooke, Quebec, Canada.
Department of Pediatrics, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
ORCID: 0000-0003-4898-1859

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Analysis of Globotriaosylceramide (Gb
questionsmedicales.fr › Techniques d'investigation › Techniques de chimie analytique › Spectrométrie de masse › Spectrométrie de masse en tandem › Analysis of Globotriaosylceramide (Gb
questionsmedicales.fr › Lipides › Lipides membranaires › Sphingolipides › Glycosphingolipides › Glycosphingolipides neutres › Céramides › Trihexosylcéramide › Analysis of Globotriaosylceramide (Gb
questionsmedicales.fr › Techniques d'investigation › Techniques de chimie analytique › Chromatographie › Chromatographie en phase liquide › Chromatographie en phase liquide à haute performance › Analysis of Globotriaosylceramide (Gb
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Maladies lysosomiales › Maladies neurologiques de surcharge lysosomiale › Sphingolipidoses › Maladie de Fabry › Analysis of Globotriaosylceramide (Gb
questionsmedicales.fr › Composés hétérocycliques › Composés hétéromonocycliques › Azoles › Imidazoles › Créatinine › Analysis of Globotriaosylceramide (Gb