Lianou, Dimitra

Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient. [electronic resource] - Clinica chimica acta; international journal of clinical chemistry Sep 2010 - 1388-9 p. digital

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't

1873-3492

10.1016/j.cca.2010.05.022 doi


Humans
Infant
Male
Methylmalonyl-CoA Decarboxylase--genetics
Mutation
Propionic Acidemia--enzymology