Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

BACKGROUND: Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis and treatment are essential to prevent major disability. Our objective was to assess the impact of genetic newborn screening for S...

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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Vill, Katharina, Schwartz, Oliver, Blaschek, Astrid, Gläser, Dieter, Nennstiel, Uta, Wirth, Brunhilde, Burggraf, Siegfried, Röschinger, Wulf, Becker, Marc, Czibere, Ludwig, Durner, Jürgen, Eggermann, Katja, Olgemöller, Bernhard, Harms, Erik, Schara, Ulrike, Kölbel, Heike, Müller-Felber, Wolfgang
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2021
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8011100/
https://ncbi.nlm.nih.gov/pubmed/33789695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01783-8
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