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Article

Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants.

Journal of inherited metabolic disease - 1 Sept 2024

Muffels I J J, Sadek M, Kozicz T, Morava E

Abstract excerpt

Mono-allelic DHDDS variants are associated with seizures, intellectual disability, and movement disorders. The age of onset and progression rates of symptoms vary greatly among patients, spanning from infancy to late adulthood. Yet, the reasons behind this clinical variability and the underlying pathophysiological mechanisms of the disease have remained elusive. We investigated the age of onset and the...

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PMID: 39540616
DOI: 10.1002/jimd.12769

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