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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Библиографические подробности
Опубликовано в: :Mol Genet Metab Rep
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2019
Предметы:
Research Paper
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6796768/
https://ncbi.nlm.nih.gov/pubmed/31641587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100514
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