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The importance of SMA screening tests in newborns – review

Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disease caused by the loss of alfa motor neurons occuring with a frequency of 1 of 11000 births. It leads to muscular weakness and is cause of high rate of mortality in children. 95% cases of SMA are caused by homozygous deletion...

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Autor principal: Barbara Rusinowska
Formato: Artigo
Lenguaje:Inglês
Publicado: Kazimierz Wielki University 2022-07-01
Colección:Journal of Education, Health and Sport
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Acceso en línea:https://apcz.umk.pl/JEHS/article/view/39216
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