Globotriaosylsphingosine (lyso-Gb
Alleles
Amino Acid Substitution
Biomarkers
Cohort Studies
Denmark
/ epidemiology
Disease Management
Enzyme Replacement Therapy
Fabry Disease
/ blood
Female
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
Glycolipids
/ blood
Heterozygote
Humans
Sphingolipids
/ blood
Treatment Outcome
alpha-Galactosidase
/ genetics
genetic research
genetics
genotype
human genetics
medical
phenotype
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
received:
04
05
2020
revised:
14
07
2020
accepted:
03
08
2020
pubmed:
24
9
2020
medline:
23
2
2022
entrez:
23
9
2020
Statut:
ppublish
Résumé
Recent studies showed the usefulness of globotriaosylsphingosine (lyso-Gb We evaluated Gb A strong correlation between plasma and urine lyso-Gb Women with Fabry disease who started treatment based on clinical manifestations had higher lyso-Gb
Identifiants
pubmed: 32963035
pii: jmedgenet-2020-107162
doi: 10.1136/jmedgenet-2020-107162
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
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
692-700Informations de copyright
© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: GE has received conference registration fees and travel grants from Sanofi Genzyme and Amicus Therapeutics and speaker’s fees from Sanofi Genzyme. UF-R has received speaker’s honoraria and unrestricted research and educational grants from Sanofi Genzyme, Shire/Takeda Pharmaceutical and Amicus Therapeutics. She is a member of Advisory Boards at Sanofi Genzyme and Amicus Therapeutics. PL has received conference registration fees and travel grants from Amicus Therapeutics and Sanofi Genzyme. MB has received salary support from Shire/Takeda Pharmaceutical. CA-B has received unrestricted investigator-initiated research grants and honoraria from Shire/Takeda Pharmaceutical and BioMarin Pharmaceutical Inc. She has service contract analyses from 4D Molecular Therapeutics, Protalix and Avrobio. She is a consultant and has received speaker’s honoraria from Amicus Therapeutics and Sanofi Genzyme. She is the Scientific director of the Waters Centre of Innovation in Sherbrooke, QC.