Nancy Carolina Ñungo-Garzón
Biographic Data
| ID | 10455085 |
|---|---|
| NAME | Nancy Carolina Ñungo-Garzón |
| GIVEN NAMES | Nancy Carolina |
| FAMILY NAME | Ñungo-Garzón |
| SIGNATURE | ÑUNGO-GARZÓN N C |
| AFFILIATIONS | Department of Pediatrics, Hospital Universitario y Politécnico la Fe, 46026 Valencia, Spain |
| VERIFIED | No |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2025 |
| LATEST PUBLICATION YEAR | 2025 |
| H-INDEX | 0 |
Neurofilaments as Biomarkers of the Efficacy of Risdiplam Treatment in Early SMA Phenotypes Diagnosed by Newborn Screening
Risdiplam is an orally administered small molecule that modifies the mRNA splicing of SMN2 for the treatment of spinal muscular atrophy (SMA). Its use is approved in presymptomatic patients diagnosed by neonatal screening with early and severe forms with two copies of SMN2, but we do not have real data on the evolution of oral treatment in this early phenotype of SMA. We present two cases treated at one month of life with a follow-up of 12 months…
No prominent works on this page.
Neurofilaments as Biomarkers of the Efficacy of Risdiplam Treatment in Early SMA Phenotypes Diagnosed by Newborn Screening
Risdiplam is an orally administered small molecule that modifies the mRNA splicing of SMN2 for the treatment of spinal muscular atrophy (SMA). Its use is approved in presymptomatic patients diagnosed by neonatal screening with early and severe forms with two copies of SMN2, but we do not have real data on the evolution of oral treatment in this early phenotype of SMA. We present two cases treated at one month of life with a follow-up of 12 months…
Biology (1 work) · Computer Science (1 work) · Congenital Anomalies and Fetal Surgery (1 work) · Gene (1 work) · Genetics (1 work) · Medicine (1 work) · Neurofilament (1 work) · Neurogenetic and Muscular Disorders Research (1 work) · Newborn screening (1 work) · Pathology (1 work)