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Description

An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene

Gabbi P, Nogueira V, Haupental F, Rodrigues FS, do Nascimento PS, Barbosa S, Arend J, Furian AF, Oliveira MS, Dos Santos ARS, Royes LFF, Fighera MR (2018) Ammonia role in glial dysfunction in methylmalonic academia