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Updated: May 22, 2025

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An atypical presentation in a child with propionic acidemia? Better think twice!

Tim Burkhardt1, Katharine L Kastor2, Stine Christ1

  • 1Medical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany.

JIMD Reports
|March 13, 2025
PubMed

Keywords:
SLC19A3biotin‐thiamine‐responsive basal ganglia diseasehyperammonemialactate acidosisneurological deteriorationpropionic acidemiapropionic aciduriathiamine metabolism dysfunction syndrome 2

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