Accès ouvert
2026
other
OpenAlex
Alba Migliorato, Daniela Parisi, Olimpia Musumeci, Federica Montagnese et autres
Pompe disease is an inherited metabolic multisystemic disorder resulting in glycogen storage in different tissues, caused by a deficiency of the lysosomal enzyme acid alfa-glucosidase. Glycogen storage is often a morphological marker in muscle biopsy of Pompe patients but it could be …
Accès ouvert
2026
article
OpenAlex
Carmelo Tiberio Currò, Antonio Ciacciarelli, Giulia Fiume, Davide Vicari et autres
BACKGROUND AND AIM: The Diffusion-Weighted Imaging Alberta Stroke Programme Early Computed Tomography Score (DWI-ASPECTS) is a rapid and practical score used for quantifying the extent of early ischemic changes in acute ischemic stroke. It is strongly associated with stroke prognosis. The present …
it
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Accès ouvert
2026
article
OpenAlex
F. Pedrazzini, Lorenzo Piergallini, Susanna Diamanti, Enrico Fainardi et autres
BACKGROUND: Collateral blood flow is a critical determinant of successful recanalization in acute ischemic stroke caused by large vessel occlusion. Head down tilt -15° (HDT15), similar to Trendelenburg positioning, is a simple, low-cost positional therapy that may augment cerebral collateral blood flow …
it, fr, gb
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2025
article
OpenAlex
Alessia Pugliese, Mattia Porcino, Selene Francesca Anna Drago, Giuseppe Trimarchi et autres
it
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Accès ouvert
2025
article
OpenAlex
Antonio Toscano, Benedikt Schoser, Raymond Saich, Kenneth I. Berger et autres
Plain Language SummaryWhat is this summary about?This is a plain language summary of an article originally published in the journal Molecular Genetics and Metabolism. Pompe disease is a rare disease that runs in families. It can have severe symptoms and impact the …
de, us
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Accès ouvert
2025
other
OpenAlex
Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Sabrina Ravaglia et autres
Abstract Background Pompe disease and Mucopolysaccharidoses Type I (MPS-I) are lysosomal disorders caused by a deficiency of α-glucosidase and alpha-L-iduronidase, respectively. The mainstay of treatment is enzyme replacement therapy (ERT), a life-long treatment that requires regular I.V. infusions. Hospital-based therapy can, however, …
it
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Accès ouvert
2025
other
OpenAlex
Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Sabrina Ravaglia et autres
Abstract Background Pompe disease and Mucopolysaccharidoses Type I (MPS-I) are lysosomal disorders caused by a deficiency of α-glucosidase and alpha-L-iduronidase, respectively. The mainstay of treatment is enzyme replacement therapy (ERT), a life-long treatment that requires regular I.V. infusions. Hospital-based therapy can, however, …
it
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Accès ouvert
2025
article
OpenAlex
Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Sabrina Ravaglia et autres
Supplementary Material 1
it
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Accès ouvert
2025
article
OpenAlex
Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Sabrina Ravaglia et autres
Supplementary Material 1
it
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Accès ouvert
2024
conference-abstract
OpenAlex
Robert D. Henderson, Antonio Toscano, Priya S. Kishnani, Mazen M. Dimachkie et autres
Objective Explore the effects of baseline characteristics on long-term safety/efficacy of avalglucosidase alfa (AVA) in subgroups of patients with late-onset Pompe disease enrolled in COMET (Phase 3; NCT02782741).Methods COMET randomised treatment-naïve patients to AVA (n=51) or alglucosidase alfa (ALG; n=49). After a …
au, it, us, fr, gb, jp, kr, br, de
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Accès ouvert
2022
article
OpenAlex
Antonio Toscano, Maurizio Scarpa, Rossella Parini, A Donati et autres
it
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Accès ouvert
2022
article
OpenAlex
Priya S. Kishnani, Jordi Díaz‐Manera, Hani Kushlaf, Shafeeq Ladha et autres
us, gb, it, nl, tw, ru, fr, kr, tr, pl, de
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