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Cecile Acquaviva-Bourdain

Hospices Civils de Lyon

SCHOLARLY PAPERS

2

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54

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Scholarly Papers (2)

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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 29 (1,345,526)

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

2.

Plasma KL-6 Reflects Pulmonary Severity and Longitudinal Response to Enzyme Replacement Therapy in Acid Sphingomyelinase Deficiency Type B

Number of pages: 10 Posted: 18 Feb 2026
Karla Cifuentes-Uribe, Nathalie Guffon, Lucie Boulière, Ségolène Turquier, Cecile Acquaviva-Bourdain, Roseline Froissart and Magali Pettazzoni
Hospices Civils de Lyon, Hospices Civils de Lyon, Hospices Civils de Lyon, Hospices Civils de Lyon, Hospices Civils de Lyon, Hospices Civils de Lyon and Hospices Civils de Lyon
Downloads 25 (1,399,036)

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Acid sphingomyelinase deficiency, Alveolar epithelial injury, Biomarker, Enzyme replacement therapy, Interstitial lung disease, KL-6, Pulmonary diffusing capacity