RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy

Abstract Background Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by progressive degeneration of motor neurons and muscle weakness resulting in premature death or severe motor disability. Over the last decade, SMA has dramatically changed thanks to new advances in care...

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Hlavní autoři:	Maria Grazia Cattinari, Mencía de Lemus, Eduardo Tizzano
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2024-02-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	RegistrAME Spinal muscular atrophy Patient registry Real-life Self-reported registry
On-line přístup:	https://doi.org/10.1186/s13023-024-03071-7
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