Muestra la distribución de disciplinas para esta publicación.
Publicaciones WoS (Ediciones: ISSHP, ISTP, AHCI, SSCI, SCI), Scopus, SciELO Chile.
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| Año | 2022 | ||
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Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
Spinal muscular atrophy (SMA) has been known as a clinical entity for 130 yearsis still recognized today as the most severe autosomal recessive neuromuscular disease (5q,13,2) in pediatrics. Until 2015, SMA treatment was limited to ventilatory, nutritional, and physical therapy support. Currently, the existence of genetic treatments: gene modification by inclusion of exon 7 to the SMN2 gene (nusinersen and risdiplam) or insertion of the SMN1 gene through the adeno-associated viral transporter (onasemnogene) have radically modified the clinical evolution of children with SMA,especially if they are treated early. This review details the effects of the 3 treatments currently in use worldwide.
| Ord. | Autor | Género | Institución - País |
|---|---|---|---|
| 1 | Torricelli, Ricardo Erazo | Hombre |
Hospital Dr. Luis Calvo Mackenna Hospital - Chile
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