default author photo

Youssef SEKKACH

affiliation not provided to SSRN

  • affiliation not provided to SSRN

SCHOLARLY PAPERS

1

DOWNLOADS

31

TOTAL CITATIONS

0

Scholarly Papers (1)

Actions:
Email selected abstracts
1.

Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease

Number of pages: 21 Posted: 19 Mar 2026
Antoine RIVAUX, Nathalie Guffon, Cécile Pagan, Anaïs Brassier, Francois GUERIN, Laurent Pasquier, Youssef SEKKACH, Babacar Ndiaye, Alain Fouilhoux, Séverine RUET, Cecile Acquaviva-Bourdain, Roseline Froissart and Magali Pettazzoni
Hospices Civils de Lyon, Hospices Civils de Lyon, Hospices Civils de Lyon, Hôpital Necker-Enfants Malades, affiliation not provided to SSRN, Université de Rennes 1 - Université Rennes 1, affiliation not provided to SSRN, Institut Pasteur de Dakar, Hospices Civils de Lyon, Hospices Civils de Lyon, Hospices Civils de Lyon, Hospices Civils de Lyon and Hospices Civils de Lyon
Downloads 31 (1,345,526)

Abstract:

Loading...

(MeSH terms): Acid sphingomyelinase deficiency, dried blood spots, Gaucher disease, lysosomal storage diseases, tandem mass spectrometry, enzyme replacement therapy