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Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy

Denise M. Kay, Colleen F. Stevens, April Parker, Carlos A. Saavedra‐Matiz, Virginia Sack, Wendy K. Chung, Claudia A. Chiriboga, Kristin Engelstad, Emma Laureta, Osman Farooq, Emma Ciafaloni, Bo Hoon Lee, Sohail Malek, Simona Treidler, Yaacov Anziska, Leslie Delfiner, Ai Sakonju, Michele Caggana

2020Genetics in Medicine78 citationsDOI

Topics & Concepts

Spinal muscular atrophyMedicineIncidence (geometry)PopulationProgressive muscular atrophyPhysical medicine and rehabilitationNewborn screeningPediatricsAtrophyPhysical therapyPathologyDiseaseAmyotrophic lateral sclerosisEnvironmental healthPhysicsOpticsNeurogenetic and Muscular Disorders ResearchCardiomyopathy and Myosin StudiesPrenatal Screening and Diagnostics
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy | Litcius