Associated Papers
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Haijes HA et al.
Journal of Inherited Metabolic Disease, 2020
31828787 (PubMed )
Supplement: JIMD-43-424-s001.pdf
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.
Cappuccio G et al.
Jimd Reports, 2017
Select a paper to view details