Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.
aberrant splicing transcript
gene analysis
globotriaosylsphingosine
late-onset biopsy-proven Fabry disease
saposin
Journal
Current issues in molecular biology
ISSN: 1467-3045
Titre abrégé: Curr Issues Mol Biol
Pays: Switzerland
ID NLM: 100931761
Informations de publication
Date de publication:
19 Jun 2021
19 Jun 2021
Historique:
received:
13
05
2021
revised:
15
06
2021
accepted:
16
06
2021
entrez:
2
7
2021
pubmed:
3
7
2021
medline:
15
12
2021
Statut:
epublish
Résumé
Fabry disease is an X-linked disorder of α-galactosidase A (GLA) deficiency. Our previous interim analysis (1 July 2014 to 31 December 2015) revealed plasma globotriaosylsphingosine as a promising primary screening biomarker for Fabry disease probands. Herein, we report the final results, including patients enrolled from 1 January to 31 December 2016 for evaluating the potential of plasma globotriaosylsphingosine and GLA activity as a combined screening marker. We screened 5691 patients (3439 males) referred from 237 Japanese specialty clinics based on clinical findings suggestive of Fabry disease using plasma globotriaosylsphingosine and GLA activity as primary screening markers, and
Identifiants
pubmed: 34205365
pii: cimb43010032
doi: 10.3390/cimb43010032
pmc: PMC8928976
doi:
Substances chimiques
Biomarkers
0
Glycolipids
0
Sphingolipids
0
globotriaosyl lysosphingolipid
126550-86-5
alpha-Galactosidase
EC 3.2.1.22
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
389-404Subventions
Organisme : Sanofi K.K.
ID : J13K0104
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