Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease.
Gaucher disease
enzyme replacement therapy (ERT)
glucosylsphingosine
lyso-Gb1
substrate reduction therapy (SRT)
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:
15 Feb 2023
15 Feb 2023
Historique:
received:
23
01
2023
revised:
10
02
2023
accepted:
11
02
2023
entrez:
25
2
2023
pubmed:
26
2
2023
medline:
3
3
2023
Statut:
epublish
Résumé
Glucosylsphingosine (lyso-Gb1), the deacylated form of glucocerebroside, was shown to be the most specific and sensitive biomarker for diagnosing Gaucher disease (GD). The aim of this study is to assess the contribution of lyso-Gb1 at the time of diagnosis for treatment decisions in naïve patients with GD. Newly diagnosed patients from July 2014 to November 2022 were included in this retrospective cohort study. The diagnosis was done by sending a dry blood spot (DBS) sample for
Identifiants
pubmed: 36835356
pii: ijms24043945
doi: 10.3390/ijms24043945
pmc: PMC9966520
pii:
doi:
Substances chimiques
Biomarkers
0
Psychosine
2238-90-6
sphingosyl beta-glucoside
52050-17-6
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Références
Br J Haematol. 2018 Aug;182(4):467-480
pubmed: 29808905
Blood. 2011 Oct 20;118(16):e118-27
pubmed: 21868580
Expert Rev Endocrinol Metab. 2018 Mar;13(2):107-118
pubmed: 30058864
QJM. 1998 Jul;91(7):483-8
pubmed: 9797931
Expert Rev Hematol. 2021 Apr;14(4):347-354
pubmed: 33759681
J Clin Med. 2019 Oct 11;8(10):
pubmed: 31614613
Am J Hematol. 2018 Jun;93(6):E140-E142
pubmed: 29473199
J Inherit Metab Dis. 2021 Sep;44(5):1165-1173
pubmed: 33829536
Int J Mol Sci. 2020 Sep 28;21(19):
pubmed: 32998334
Intern Med J. 2022 May;52(5):872-875
pubmed: 35538014
Haematologica. 2021 Feb 01;106(2):437-445
pubmed: 32001533
Blood Cells Mol Dis. 2009 Jul-Aug;43(1):138-9
pubmed: 19427246
J Inherit Metab Dis. 2020 May;43(3):558-563
pubmed: 31707742
Orphanet J Rare Dis. 2022 Nov 3;17(1):401
pubmed: 36329499
J Hum Genet. 2017 Aug;62(8):763-768
pubmed: 28356566
Genet Mol Biol. 2020 May 29;43(2):e20180334
pubmed: 32478793
Int J Mol Sci. 2020 Feb 13;21(4):
pubmed: 32069933
Adv Drug Deliv Rev. 2022 Aug;187:114402
pubmed: 35764179
J Inherit Metab Dis. 2018 Mar;41(2):209-219
pubmed: 29143201
Semin Perinatol. 2015 Apr;39(3):206-16
pubmed: 25891428
Am J Hematol. 2020 Mar;95(3):233-237
pubmed: 31816110
Korean J Anesthesiol. 2022 Feb;75(1):25-36
pubmed: 35124947
J Genet Couns. 2016 Apr;25(2):373-84
pubmed: 26315880
Mol Genet Metab. 2022 May;136(1):4-21
pubmed: 35367141
Int J Mol Sci. 2019 Jun 21;20(12):
pubmed: 31234327
Int J Mol Sci. 2017 Oct 20;18(10):
pubmed: 29053611
Int J Mol Sci. 2020 Jun 27;21(13):
pubmed: 32605119
Int J Mol Sci. 2022 Jan 30;23(3):
pubmed: 35163551
Thromb Haemost. 2022 Jun;122(6):951-960
pubmed: 34507369
PLoS One. 2013 Nov 20;8(11):e79732
pubmed: 24278166