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Found 14 publications

Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.

Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance.

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.

Pancreatic involvement in patients with inborn errors of metabolism.

SARS-CoV-2 infection in a patient with propionic acidemia.

Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a C. elegans propionic acidemia model.

Utility of metabolic screening in neurological presentations of infancy.

Post-transplantation Outcomes in Patients with PA or MMA: A Review of the Literature.

Liver Transplantation for Propionic Acidemia: A Multicenter-linked Database Analysis.

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?

Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

Liver Transplantation in Children With Propionic Acidemia: Medium-Term Outcomes.

Showing 1-12 of 14