Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease.
- DOI
- 10.1016/j.ymgme.2026.110238
- Published
- 2026 Sep-Oct
- Container
- Molecular genetics and metabolism
- Publisher
- Not recorded
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1016/j.ymgme.2026.110238,
title = {Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease.},
author = {Rivaux A and Guffon N and Pagan C and Brassier A and Guérin F and Pasquier L and Sekkach Y and Ndiaye B and Fouilhoux A and Acquaviva-Bourdain C and Ruet S and Froissart R and Pettazzoni M},
year = {2026},
journal = {Molecular genetics and metabolism},
doi = {10.1016/j.ymgme.2026.110238},
url = {https://doi.org/10.1016/j.ymgme.2026.110238}
}RIS
TY - JOUR TI - Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease. AU - Rivaux A AU - Guffon N AU - Pagan C AU - Brassier A AU - Guérin F AU - Pasquier L AU - Sekkach Y AU - Ndiaye B AU - Fouilhoux A AU - Acquaviva-Bourdain C AU - Ruet S AU - Froissart R AU - Pettazzoni M PY - 2026 JO - Molecular genetics and metabolism DO - 10.1016/j.ymgme.2026.110238 UR - https://doi.org/10.1016/j.ymgme.2026.110238 ER -
APA
A, R., N, G., C, P., A, B., F, G., L, P., Y, S., B, N., A, F., C, A., S, R., R, F., & M, P. (2026). Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease.. Molecular genetics and metabolism. https://doi.org/10.1016/j.ymgme.2026.110238
Source records
- pubmed · retrieved 2026-09-27T07:04:36.502Z