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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:J Neuromuscul Dis
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: IOS Press 2020
Konular:
Research Report
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller