Profiling and semi-quantitation of urine sulfatides by UHPLC-Orbitrap-HRMS

This study proves the feasibility of diagnosing MLD and severe MSD based on sulfatide excretion in urine. We established (gestational) age-specific cut-offs of the total sulfatide excretion and composition. Interpretation of the composition (e.g. by calculation the ratio (d18:1/C22:0+d18:1/C24:0)/(d18:1/C22:0-OH + d18:1/C24:0-OH)) may reduce false positives, especially when sampling at young age.

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Publication Details

Journal
Analytica Chimica Acta
Published
2025-02-22
DOI
https://doi.org/10.1016/j.aca.2025.343824
Primary Topic
Metabolism and Genetic Disorders
Type
article
Field-Weighted Citation Impact
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article

Profiling and semi-quantitation of urine sulfatides by UHPLC-Orbitrap-HRMS

Maria van der Ham, Eva M. M. Hoytema van Konijnenburg, Johan Gerrits, Monique G.M. de Sain–van der Velden et al.
Analytica Chimica Acta
Metabolism and Genetic Disorders
article

Profiling and semi-quantitation of urine sulfatides by UHPLC-Orbitrap-HRMS

Maria van der Ham, Eva M. M. Hoytema van Konijnenburg, Johan Gerrits, Monique G.M. de Sain–van der Velden, Peter van Hasselt, Lucia Laugwitz, Hubertus C.M.T. Prinsen, Judith Jans, Lars Schlotawa, Wouter van Rossum
article en

Abstract

This study proves the feasibility of diagnosing MLD and severe MSD based on sulfatide excretion in urine. We established (gestational) age-specific cut-offs of the total sulfatide excretion and composition. Interpretation of the composition (e.g. by calculation the ratio (d18:1/C22:0+d18:1/C24:0)/(d18:1/C22:0-OH + d18:1/C24:0-OH)) may reduce false positives, especially when sampling at young age.

Analytica Chimica ActaVol. 1350
University Medical Center Utrecht (NL), Netherlands Metabolomics Centre (NL), University Children's Hospital Tübingen (DE), Wilhelmina Children's Hospital (NL), University of Göttingen (DE), University of Tübingen (DE)
Clean water and sanitation
Openalex Percentile: Top 96%
Metabolism and Genetic Disorders
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Profiling and semi-quantitation of urine sulfatides by UHPLC-Orbitrap-HRMS — Maria van der Ham, Eva M. M. Hoytema van Konijnenburg, et al. · Analytica Chimica Acta (2025) | TGRS Research Map | TGRS