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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
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 |
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