Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots.
Capitainer®B
Fabry disease
biomarkers
dried blood spots
globotriaosylsphingosine
lyso-Gb3 analogues
mass spectrometry
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
06 Feb 2023
06 Feb 2023
Historique:
received:
28
11
2022
revised:
19
01
2023
accepted:
26
01
2023
entrez:
25
2
2023
pubmed:
26
2
2023
medline:
3
3
2023
Statut:
epublish
Résumé
Fabry disease (FD) is an X-linked lysosomal storage disorder where impaired α-galactosidase A enzyme activity leads to the intracellular accumulation of undegraded glycosphingolipids, including globotriaosylsphingosine (lyso-Gb
Identifiants
pubmed: 36834643
pii: ijms24043223
doi: 10.3390/ijms24043223
pmc: PMC9966246
pii:
doi:
Substances chimiques
Glycolipids
0
Sphingolipids
0
alpha-Galactosidase
EC 3.2.1.22
Biomarkers
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Funds from C. Auray-Blais
ID : None
Organisme : Sanofi Genzyme
ID : None
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