Neonatal screening for spinal muscular atrophy: A pilot study in Brazil

Neonatal screening for spinal muscular atrophy: A pilot study in Brazil

Abstract Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal screening (NBS) panels since there are several therapies available and the...

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Bibliographic Details
Main Authors: Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Júlia F. Lemos, Fernanda B. Pasetto, Carolina S. Brasil, Franciele B. Trapp, Jonas Alex Morales Saute, Karina Carvalho Donis, Michele Michelin Becker, Paloma Wiest, Vivian L. S. Coutinho, Simone Castro, Juliana Ferreira, Cynthia Silveira, Maria Fernanda R. Bittar, Cristina Wang, Janaina M. Lana, Marcondes Cavalcante França Junior, Roberto Giugliani
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2023-12-01
Series:Genetics and Molecular Biology
Subjects:
Spinal Muscular Atrophy
neonatal screening
Brazil
real-time PCR
MLPA
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572023000600110&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572023000600110&lng=en&tlng=en

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