Health outcomes in spinal muscular atrophy type 1 following AVXS‐101 gene replacement therapy
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.24203
Abstract: Spinal Muscular Atrophy type 1 (SMA1) is a rare genetic neuromuscular disease where 75% of SMA1 patients die/require permanent‐ventilation by 13.6 months. This study assessed the health outcomes of SMA1 infants treated with AVXS‐101 gene… read more here.
Keywords: health outcomes; spinal muscular; avxs 101; atrophy type ... See more keywords
Respiratory characteristics in children with spinal muscular atrophy type 1 receiving nusinersen
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.26173
Abstract: Spinal muscular atrophy type 1 (SMA1) is a neuromuscular disorder with a natural history of chronic respiratory failure and death during infancy without ventilation. Recently, disease‐modifying therapies such as nusinersen have improved disease trajectory. However,… read more here.
Keywords: spinal muscular; respiratory; atrophy type; muscular atrophy ... See more keywords
[Ethical attitudes of intensive care paediatricians as regards patients with spinal muscular atrophy type 1].
Sign Up to like & getrecommendations! Published in 2017 at "Anales de pediatria"
DOI: 10.1016/j.anpedi.2016.01.014
Abstract: INTRODUCTION Spinal muscular atrophy type 1 (SMA-1) is a progressive and fatal disease that leads to ethical problems for Paediatric professionals. Our objective was to determine the ethical options of Paediatric Intensive Care Unit (PICU)… read more here.
Keywords: spinal muscular; atrophy type; intensive care; muscular atrophy ... See more keywords
Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation.
Sign Up to like & getrecommendations! Published in 2021 at "Clinical nutrition"
DOI: 10.1016/j.clnu.2021.02.026
Abstract: BACKGROUND Body composition assessment is paramount for spinal muscular atrophy type I (SMA I) patients, as weight and BMI have proven to be misleading for these patients. Despite its importance, no disease-specific field method is… read more here.
Keywords: mass equations; spinal muscular; atrophy type; mass ... See more keywords
Spinal Muscular Atrophy Type I
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Child Neurology"
DOI: 10.1177/0883073816671236
Abstract: The natural history of spinal muscular atrophy type I (SMA-I) has changed as improved medical support has become available. With investigational drugs for spinal muscular atrophy now in clinical trials, efficient trial design focuses on… read more here.
Keywords: spinal muscular; atrophy type; support; muscular atrophy ... See more keywords