Associated Papers
Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.
McCrory NM et al.
The Journal of Pediatrics, 2017
Autism in patients with propionic acidemia.
Witters P et al.
Molecular Genetics and Metabolism, 2016
Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.
Gallego-Villar L et al.
Journal of Inherited Metabolic Disease, 2013
Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases.
Pérez B et al.
Molecular Genetics and Metabolism, 2012
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Pérez B et al.
Journal of Inherited Metabolic Disease, 2010
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0
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