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Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias

2 Apr 2024

Abstract excerpt

The current German newborn screening (NBS) panel includes 13 inherited metabolic diseases (IMDs). In addition, a NBS pilot study in Southwest Germany identifies individuals with propionic acidemia (PA), methylmalonic acidemia (MMA), combined and isolated remethylation disorders (e.g., cobalamin [cbl] C and methylenetetrahydrofolate reductase [MTHFR] deficiency), cystathionine β-synthase (CBS) deficiency, and...

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PMID: 38563533
DOI: 10.1002/jimd.12731

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