LAFORÊT , Pascal

Last name: LAFORÊT

First name: Pascal

2023 (v1)

Journal article

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Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry

Lessard, Lola E.R. Tard, Céline Salort-Campana, Emmanuelle

Background and objectives: Pompe disease is a rare hereditary glycogen storage disorder due to lysosomal acid alpha-glucosidase deficiency. Enzyme replacement therapy (ERT) is the only available treatment. Infusion-associated reactions (IAR) are challenging since there are no guidelines for ERT rechallenge after a drug hypersensitivity reaction...

Uploaded on: October 11, 2023
2024 (v1)

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Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry

Retailleau, Emilie Lefeuvre, Claire de Antonio, Marie

© 2024 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.Background and purpose: Late onset Pompe disease (LOPD) is a rare neuromuscular disorder caused by a deficit in acid alpha-glucosidase. Macroglossia and swallowing disorders have already been reported, but no study...

Uploaded on: September 5, 2024
2019 (v1)

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Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Laforêt, Pascal Inoue, Michio Goillot, Evelyne

International audience

Uploaded on: December 4, 2022

LAFORÊT , Pascal

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