Lysosphingolipid Quantitation in Plasma and Dried‐Blood Spots Using Targeted High‐Resolution Mass Spectrometry
Our study presents a high-resolution mass spectrometry method along with the established cutoff values, providing a valuable tool for targeted screening, accurate diagnosis, and monitoring sphingolipidoses. Furthermore, DBS showed reliable results that lay the path to a broader adoption for screening these diseases.
Authors
- Stéphane Marret (ORCID: https://orcid.org/0000-0002-2858-148X)
- Nadia Belmatoug (ORCID: https://orcid.org/0000-0002-7917-741X)
- Carine Pilon
- Sabrina Vergnaud (ORCID: https://orcid.org/0000-0001-5283-4320)
- Franklin Ducatez (ORCID: https://orcid.org/0000-0002-8556-7270)
- Olivier Lidove (ORCID: https://orcid.org/0000-0003-4847-7839)
- Yann Nadjar (ORCID: https://orcid.org/0000-0003-1466-6957)
- Soumeya Bekri (ORCID: https://orcid.org/0000-0001-6184-7270)
- Javier I. Ottaviani (ORCID: https://orcid.org/0000-0002-4909-0452)
- Régine Perrichot
- Abdellah Tebani (ORCID: https://orcid.org/0000-0002-8901-2678)
- Thomas Plichet
- Wladimir Mauhin (ORCID: https://orcid.org/0000-0003-4463-9757)
- Juliette Berger
- Marc G. Berger
- Foudil Lamari (ORCID: https://orcid.org/0000-0002-5104-2935)
- Frédéric Barbey
- Esther Noël
Institutions
- Inserm (FR)
- Université Clermont Auvergne (FR)
- Université Paris Cité (FR)
- Hôpital Beaujon (FR)
- Centre Hospitalier Universitaire de Grenoble (FR)
- Centre Hospitalier Universitaire Vaudois (CH)
- Sorbonne Université (FR)
- Normandie Université (FR)
- Centre hospitalier Bretagne Atlantique (FR)
- Groupe Hospitalier Diaconesses Croix Saint-Simon (FR)
- Pitié-Salpêtrière Hospital (FR)
- Centre Hospitalier Universitaire de Clermont-Ferrand (FR)
- Institut de Biologie Structurale (FR)
- Université de Rouen Normandie (FR)
- Université de Strasbourg (FR)
- University of Lausanne (CH)
Publication Details
- Journal
- Journal of Clinical Laboratory Analysis
- Published
- 2024-12-27
- DOI
- https://doi.org/10.1002/jcla.25131
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.33