Molecular based newborn screening in Germany: Follow-up for cystinosis

BACKGROUND: Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far. METHODS: This prospective pilot study was performed within the German NBS framework. DNA, extracted from dried blood...

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Detalles Bibliográficos
Autores principales: Hohenfellner, Katharina, Bergmann, Carsten, Fleige, Tobias, Janzen, Nils, Burggraf, Siegfried, Olgemöller, Bernd, Gahl, William A., Czibere, Ludwig, Froschauer, Sonja, Röschinger, Wulf, Vill, Katharina, Harms, Erik, Nennstiel, Uta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796768/
https://www.ncbi.nlm.nih.gov/pubmed/31641587
http://dx.doi.org/10.1016/j.ymgmr.2019.100514

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