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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8011100/
https://www.ncbi.nlm.nih.gov/pubmed/33789695
http://dx.doi.org/10.1186/s13023-021-01783-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8011100/
https://www.ncbi.nlm.nih.gov/pubmed/33789695
http://dx.doi.org/10.1186/s13023-021-01783-8

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