Associated Papers
Propionic acidemia and methylmalonic aciduria: A portrait of the first 3 years-Admissions and complications.
Chapman KA et al.
Molecular Genetics and Metabolism, 2025
Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia.
Maryami F et al.
Molecular Genetics and Genomics : Mgg, 2023
Clinical characteristics and mutation analysis of propionic acidemia in Thailand.
Vatanavicharn N et al.
World Journal of Pediatrics : Wjp, 2014
Mutation analysis in 54 propionic acidemia patients.
Kraus JP et al.
Journal of Inherited Metabolic Disease, 2012
High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.
Desviat LR et al.
Molecular Genetics and Metabolism, 2009
New splicing mutations in propionic acidemia.
Desviat LR et al.
Journal of Human Genetics, 2006
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