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

Nutrients - 28 Jul 2023

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

Abstract excerpt

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 B12 deficiency, and report on the identification of cofactor-responsive disease variants. This evaluation of the previously established combined multiple-tier NBS...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37571294
DOI: 10.3390/nu15153355
PMCID: PMC10420807

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