Newborn screening: A disease-changing intervention for glutaric aciduria type 1.

doi:10.1002/ana.25233

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Article

Newborn screening: A disease-changing intervention for glutaric aciduria type 1.

Annals of neurology - 1 May 2018

Boy Nikolas, Mengler Katharina, Thimm Eva, Schiergens Katharina A, Marquardt Thorsten, Weinhold Natalie, Marquardt Iris, Das Anibh M, Freisinger Peter, Grünert Sarah C, Vossbeck Judith, Steinfeld Robert, Baumgartner Matthias R, Beblo Skadi, Dieckmann Andrea, Näke Andrea, Lindner Martin, Heringer Jana, Hoffmann Georg F, Mühlhausen Chris, Maier Esther M, Ensenauer Regina, Garbade Sven F, Kölker Stefan

Abstract excerpt

OBJECTIVE: Untreated individuals with glutaric aciduria type 1 (GA1) commonly present with a complex, predominantly dystonic movement disorder (MD) following acute or insidious onset striatal damage. Implementation of GA1 into newborn screening (NBS) programs has improved the short-term outcome. It remains unclear, however, whether NBS changes the long-term outcome and which variables are predictive. METHODS:...

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PMID: 29665094
DOI: 10.1002/ana.25233

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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