Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?(1)

Although the value of newborn screening (NBS) for early detection and treatment opportunity in SMA patients is generally accepted, there is still an ongoing discussion about the best strategy in children with 4 and more copies of the SMN2 gene. This gene is known to be the most important but not the...

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發表在:J Neuromuscul Dis
Main Authors: Müller-Felber, Wolfgang, Vill, Katharina, Schwartz, Oliver, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Durner, Jürgen, Eggermann, Katja, Müller, Christine, Hannibal, Iris, Olgemöller, Bernd, Schara, Ulrike, Blaschek, Astrid, Kölbel, Heike
格式: Artigo
語言:Inglês
出版: IOS Press 2020
主題:
Research Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7175938/
https://ncbi.nlm.nih.gov/pubmed/32144995
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-200475
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