Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13
Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations
Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations
Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution