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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2020
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175938/
https://www.ncbi.nlm.nih.gov/pubmed/32144995
http://dx.doi.org/10.3233/JND-200475

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175938/
https://www.ncbi.nlm.nih.gov/pubmed/32144995
http://dx.doi.org/10.3233/JND-200475

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