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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Bibliographic Details
Published in: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
Language:Inglês
Published: BioMed Central 2021
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Research
Online Access: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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