Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
GD-DS3
Gaucher disease
biomarkers
glucosylsphingosine
lyso-Gb1
Journal
Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402
Informations de publication
Date de publication:
30 Aug 2023
30 Aug 2023
Historique:
received:
13
07
2023
revised:
04
08
2023
accepted:
10
08
2023
medline:
9
9
2023
pubmed:
9
9
2023
entrez:
9
9
2023
Statut:
epublish
Résumé
Gaucher disease (GD) is a rare autosomal recessive disorder arising from bi-allelic variants in the
Identifiants
pubmed: 37685353
pii: diagnostics13172812
doi: 10.3390/diagnostics13172812
pmc: PMC10487050
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Shire HG (now Takeda)
ID : Master Services Agreement 2011
Références
J Cell Sci. 2019 Jan 16;132(2):
pubmed: 30651381
Orphanet J Rare Dis. 2017 Feb 20;12(1):38
pubmed: 28219443
Blood. 2011 Oct 20;118(16):e118-27
pubmed: 21868580
Mol Genet Metab. 2017 Sep;122(1-2):113-120
pubmed: 28851512
Genet Med. 2010 Jan;12(1):44-51
pubmed: 20027115
Mol Genet Metab. 2017 Jan - Feb;120(1-2):8-21
pubmed: 27916601
Am J Hematol. 2015 Jul;90 Suppl 1:S12-8
pubmed: 26096741
J Leukoc Biol. 2005 Jul;78(1):14-26
pubmed: 15784687
Clin Chim Acta. 2004 Jun;344(1-2):101-7
pubmed: 15149877
Pediatr Res. 2003 Mar;53(3):387-95
pubmed: 12595585
Biochim Biophys Acta. 2014 May;1841(5):811-25
pubmed: 24239767
Am J Hematol. 2016 Nov;91(11):1082-1089
pubmed: 27441734
J Med Genet. 2020 Feb;57(2):124-131
pubmed: 31649052
Iran J Child Neurol. 2021 Summer;15(3):139-166
pubmed: 34282371
JAMA. 2007 Sep 19;298(11):1281-90
pubmed: 17878420
Genet Mol Biol. 2016 Mar;39(1):30-4
pubmed: 27007895
J Clin Invest. 1994 Mar;93(3):1288-92
pubmed: 8132768
Orphanet J Rare Dis. 2015 May 22;10:64
pubmed: 25994334
Curr Rheumatol Rep. 2000 Apr;2(2):175-80
pubmed: 11123056
Int J Mol Sci. 2020 Jun 27;21(13):
pubmed: 32605119
Int J Mol Sci. 2022 Jan 30;23(3):
pubmed: 35163551
Orphanet J Rare Dis. 2016 Mar 24;11:28
pubmed: 27008851
PLoS One. 2013 Nov 20;8(11):e79732
pubmed: 24278166
Mol Genet Metab. 2004 Sep-Oct;83(1-2):6-15
pubmed: 15464415
Am J Hematol. 2018 Jun;93(6):E140-E142
pubmed: 29473199
Arch Intern Med. 2010 Sep 13;170(16):1463-9
pubmed: 20837833
Int J Mol Sci. 2020 Sep 28;21(19):
pubmed: 32998334
FEBS J. 2009 Oct;276(19):5678-88
pubmed: 19725875