Organic Acidemias
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-030-94510-7_18
Reference184 articles.
1. Abily-Donval L, Torre S, Samson A, Sudrie-Arnaud B, Acquaviva C, Guerrot AM, et al. Methylmalonyl-CoA epimerase deficiency mimicking propionic aciduria. Int J Mol Sci. 2017;18(11):2294.
2. Heuberger K, Bailey HJ, Burda P, Chaikuad A, Krysztofinska E, Suormala T, et al. Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency. Biochim Biophys Acta Mol basis Dis. 2019;1865(6):1265–72.
3. Waters PJ, Thuriot F, Clarke JT, Gravel S, Watkins D, Rosenblatt DS, et al. Methylmalonyl-coA epimerase deficiency: a new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene. Mol Genet Metab Rep. 2016;9:19–24.
4. Sniderman LC, Lambert M, Giguere R, Auray-Blais C, Lemieux B, Laframboise R, et al. Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. J Pediatr. 1999;134(6):675–80.
5. Yorifuji T, Kawai M, Muroi J, Mamada M, Kurokawa K, Shigematsu Y, et al. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. Hum Genet. 2002;111(2):161–5.
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