A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry.

Authors:
Van Baelen A; Roosens L; Devos S; Verhulst S; Eyskens F.

Journal:
Mol Genet Metab Rep

Publication Year: 2023

DOI:
10.1016/j.ymgmr.2023.100993

PMCID:
PMC10462886

PMID:
37649874

View on PubMed View on PMC View Publisher
Journal Information

Full Title: Mol Genet Metab Rep

Abbreviation: Mol Genet Metab Rep

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics & Heredity

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Related Papers from Same Journal
A novel <i>GATA3</i> frameshift mutation causes hypoparathyroidism, sensorineural deafness, and ren…
Huang B; Li S; Chai Y and 6 more (2024) - Transparency Score: 3/6
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and G…
Guelbert N; Espitia Segura OM; Amoretti C and 32 more (2024) - Transparency Score: 3/6
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactos…
Almenabawy N; Bahl S; Ostlund AL and 4 more (2024) - Transparency Score: 3/6
Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential bas…
Mathis D; Koch J; Koller S and 6 more (2024) - Transparency Score: 3/6
Letter to the Editors: Concerning "Hyperleucinosis during infections in maple syrup urine disease p…
Takano C; Ogawa E; Arai-Ichinoi N and 1 more (2024) - Transparency Score: 3/6
View All Papers from This Journal
Transparency Score
2/6
33.3% Transparent
Transparency Indicators
Click on green indicators to view evidence text
Core Indicators
Data Sharing
Code Sharing
Evidence found in paper:

"Declaration of Competing Interest The author François Eyskens is the president of Metabolics.be and a member of the MetabERN Medical Executive Committee. Additionally he attended advisory boards and received speaking fees and travel grants from Takeda, Sanofi, Recordati, Protalix, Amicus, Acthelion, Alexion, Chiesi and Ultragenyx. The other authors have nothing to disclose."

Funding Disclosure
Protocol Registration
Open Access
Paper is freely available to read
Additional Indicators
Replication
Novelty Statement
Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025