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Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study

delete2026-06-17
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PRE
AI
V
Vincent Lavoie *
S
Samia Pichard
J
Juliette Bouchereau
L
Lucie Griffon
S
Sonia Khirani
M
Meryl Vedrenne-Cloquet
M
Manuel Schiff
A
Anaïs Brassier
B
Brigitte Fauroux
DOI:10.1016/j.ymgme.2026.110194delete
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Abstract

Abstract

En 中文
Pompe disease is a lysosomal disorder associated with respiratory muscle weakness and a high risk of sleep-disordered breathing (SDB). The impact of enzyme replacement therapy (ERT) on respiratory parameters remains insufficiently analyzed. The aim of the study was to retrospectively review the polysomnographic/polygraphic (PSG/PG) characteristics and longitudinal trajectories of 22 children with Pompe disease in an era of universal access to ERT in France.

Journal

Molecular Genetics and Metabolism cover
Molecular Genetics and Metabolism
IF:
3.5
Papers:
1.1W
Citations:
8.3K

Organization

U
University of Sherbrooke
Scholars:
1.1W
Papers: 9.4K
Citations: 11
Hôpital Necker-Enfants Malades cover
Hôpital Necker-Enfants Malades
Scholars:
60
Papers: 18
Citations: 6.4K
U
université parís cité
Scholars:
1.1K
Papers: 429
Citations: 0
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