Associated Papers
[Sequential therapy with carglumic acid in three cases of organic acidemia crisis].
Chen YY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2025
Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies.
Dai M et al.
Orphanet Journal of Rare Diseases, 2020
Propionyl-CoA carboxylase - A review.
Wongkittichote P et al.
Molecular Genetics and Metabolism, 2017
Mutation analysis in 54 propionic acidemia patients.
Kraus JP et al.
Journal of Inherited Metabolic Disease, 2012
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Pérez B et al.
Journal of Inherited Metabolic Disease, 2010
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
Yang X et al.
Molecular Genetics and Metabolism, 2004
Functional characterization of PCCA mutations causing propionic acidemia.
Clavero S et al.
Biochimica Et Biophysica Acta, 2002
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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