Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria

Newborn screening (NBS) programs are effective measures of secondary prevention and have been successively extended. We aimed to evaluate NBS for methylmalonic acidurias, propionic acidemia, homocystinuria, remethylation disorders and neonatal vitamin B(12) deficiency, and report on the identificati...

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Detalles Bibliográficos
Autores principales: Schnabel, Elena, Kölker, Stefan, Gleich, Florian, Feyh, Patrik, Hörster, Friederike, Haas, Dorothea, Fang-Hoffmann, Junmin, Morath, Marina, Gramer, Gwendolyn, Röschinger, Wulf, Garbade, Sven F., Hoffmann, Georg F., Okun, Jürgen G., Mütze, Ulrike
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10420807/
https://www.ncbi.nlm.nih.gov/pubmed/37571294
http://dx.doi.org/10.3390/nu15153355

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10420807/
https://www.ncbi.nlm.nih.gov/pubmed/37571294
http://dx.doi.org/10.3390/nu15153355

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