Publications by authors named "Noor Benmhammed"
The rapid development of therapies for severe and rare genetic conditions underlines the need to incorporate first-tier genetic testing into newborn screening (NBS) programs. A workflow was developed to screen newborns for 165 treatable pediatric disorders by deep sequencing of regions of interest in 405 genes. The prospective observational BabyDetect pilot project was launched in September 2022 in a maternity ward of a public hospital in the Liege area, Belgium.
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- * A study involving 99 SMA type I-III patients examined the perceptions of treatment benefits among different outcome groups, consisting of those with significant, non-significant, or no improvement after 15 months of treatment.
- * The findings indicate that there is little difference in how patients and caregivers perceive the benefits of treatment among the different groups, suggesting that standard functional scales may not fully capture their real-life experiences with the treatment.