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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

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S. Monges

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Open access Sep 2026

Molecular diagnosis of spinal muscular atrophy: Experience in a pediatric hospital in Argentina.

Introduction. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by the loss of the SMN1 gene, with a variable clinical spectrum determined primarily by the number of copies of the SMN2 gene. The development of new therapies underscores the importance of early molecular diagnosis and g...

Michelle Bursztyn, H. V. Aráoz, Josefina Chinton et al. · 0 citations
Review Open access Sep 2026

Consensus for the Diagnosis and Treatment of Patients With Spinal Muscular Atrophy (SMA) in Latin America.

BACKGROUND 5q spinal muscular atrophy (5q SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron 1 gene (SMN1), leading to deficiency of SMN protein and a variable clinical spectrum influenced by survival motor neuron 2 gene (SMN2) copy number. The advent of disease-modif...

Andrés Nascimento-Osorio, Graciela Barros Acevedo, M. de los Ángeles Beytía et al. · 0 citations

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