Associated Papers
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.
van der Meulen MH et al.
Circulation. Genomic and Precision Medicine, 2022
Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.
Stanescu S et al.
Amino Acids, 2022
Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance.
Stanescu S et al.
Orphanet Journal of Rare Diseases, 2021
Long-term follow-up with filter paper samples in patients with propionic acidemia.
Stanescu S et al.
Jimd Reports, 2021
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
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.
Rivera-Barahona A et al.
Molecular Genetics and Metabolism, 2018
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