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Anaïs Brassier

Hôpital Necker-Enfants Malades

SCHOLARLY PAPERS

2

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50

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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.

Pediatric Sleep-Disordered Breathing in Pompe Disease at the Era of Enzyme Replacement Therapy

Number of pages: 19 Posted: 23 Apr 2026
Vincent Lavoie, Samia Pichard, juliette bouchereau, Lucie Griffon, Sonia Khirani, Meryl Vedrenne-Cloquet, Manuel Schiff, Anaïs Brassier and Brigitte Fauroux
Université de Sherbrooke - Centre Hospitalier Universitaire de Sherbrooke, Hôpital Necker-Enfants Malades, Hôpital Necker-Enfants Malades, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Hôpital Necker-Enfants Malades, Hôpital Necker-Enfants Malades and affiliation not provided to SSRN
Downloads 21 (1,459,862)

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Pompe Disease, Sleep-Disordered Breathing, Enzyme Replacement Therapy, Polysomnography, Pediatrics, Child