Multicentric Retrospective Evaluation of Five Classic Infantile Pompe Disease Subjects Under Enzyme Replacement Therapy With Early Infratentorial Involvement.
ERT (enzyme replacement therapy)
IOPD
Pompe disease
brain MRI
infantile-onset Pompe disease
white matter (WM)
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2020
2020
Historique:
received:
04
06
2020
accepted:
20
10
2020
entrez:
17
12
2020
pubmed:
18
12
2020
medline:
18
12
2020
Statut:
epublish
Résumé
White matter (WM) abnormalities and ventricular enlargement in brain MRI are well-known features in infantile-onset Pompe disease (IOPD) in the era of enzyme replacement therapy (ERT). In this multicentric observational retrospective study, we report a small cohort of IOPD subjects under ERT treatment (
Identifiants
pubmed: 33329311
doi: 10.3389/fneur.2020.569153
pmc: PMC7732650
doi:
Types de publication
Journal Article
Langues
eng
Pagination
569153Informations de copyright
Copyright © 2020 Paoletti, Pichiecchio, Colafati, Conte, Deodato, Gasperini, Menni, Furlan, Rubert, Triulzi and Cinnante.
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