Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked muscular disease with an overall incidence of 1:5,000 live male births. Recent availability in treatment for DMD raised the need of early diagnosis, and DMD became as a selective item of newborn screening (NBS) since Feb. ...
27, 2024 /PRNewswire/ -- Marking a significant milestone in improving the lives of children affected by Duchenne muscular dystrophy (Duchenne), Parent Project Muscular Dystrophy (PPMD) proudly announces that Massachusetts has approved the addition of Duchenne to the state's newb...
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The first test to aid in screening newborns for Duchenne muscular dystrophy (DMD) has received FDA authorization for marketing.Authorization of the GSP
The AFFINITY BEYOND® observational screening study to evaluate the prevalence of AAV8 antibodies in patients with Duchenne up to 12 years of age is also active and recruiting patients. Learn more about the trial:NCT05683379 Meet the Morgan family and watch their inspiring journey with their son...
Screening for Duchenne muscular dystrophy in Germany, 1977–2011: a personal story. Muscle Nerve 57, 185–188 (2018). Article PubMed Google Scholar Moat, S. J. et al. Characterization of a blood spot creatine kinase skeletal muscle isoform immunoassay for high-throughput newborn screening of...
Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol 2012;71(3):304–13. https://doi.org/10.1002/ana.23528 Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the duchenne muscular dystrophy locus. Cell. 1987;51(6):919–28. https://doi....
Evidence-based path to newborn screening for Duchenne muscular dystrophy[J]. Ann Neurol, 2012,71(3):304-313. DOI: 10.1002/ana.23528 . 返回引文位置Google Scholar 百度学术 万方数据 [18] Posner AD , Soslow JH , Burnette WB ,et al. The correlation of skeletal and cardiac muscle ...
More than 15% of cases of Duchenne muscular dystrophy (DMD) may be preventable by the neonatal diagnosis of another affected relative. Systematic neonatal screening seems a more efficient way of getting information for genetic counseling. The principle of the test described is the detection of a ...
Areas covered: High-throughput high-content screening and precision medicine offer exciting new opportunities. Here, the authors review animal models that are suitable for these studies. Expert opinion: Nonmammalian models (worm, fruit fly, and zebrafish) are particularly attractive for cost-effective ...