Newborn Screening and Birth Prevalence for Spinal Muscular Atrophy in the US
Author:
Affiliation:
1. Cure SMA, Elk Grove Village, Illinois
2. American College of Medical Genetics and Genomics, Bethesda, Maryland
Abstract
Publisher
American Medical Association (AMA)
Link
https://jamanetwork.com/journals/jamapediatrics/articlepdf/2821067/jamapediatrics_belter_2024_ld_240023_1724260072.33327.pdf
Reference6 articles.
1. Spinal muscular atrophy: diagnosis and management in a new therapeutic era.;Arnold;Muscle Nerve,2015
2. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.;Sugarman;Eur J Hum Genet,2012
3. A multi-source approach to determine SMA incidence and research ready population.;Verhaart;J Neurol,2017
4. Technical standards and guidelines for spinal muscular atrophy testing.;Prior;Genet Med,2011
5. Committee opinion No. 691: carrier screening for genetic conditions.;American College of Obstetricians and Gynecologists;Obstet Gynecol,2017
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1. SMA-Screening für Neugeborene;Monatsschrift Kinderheilkunde;2024-08-19
2. Clinical decision making around commercial use of gene and genetic therapies for spinal muscular atrophy;Neurotherapeutics;2024-07
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