Ikumi Nishi

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

Tomotsugu Yasuda, Naoki Yamaguchi, Keiko Kobayashi et al. · Human Genetics · 2000 · 133 citations

Life Sciences, Genetics, Molecular Genetics +9

Neonatal presentation of adult-onset type II citrullinemia

Toshihiro Ohura, Keiko Kobayashi, Yusaku Tazawa et al. · Human Genetics · 2001 · 131 citations

Medicine, Neurology, Pediatrics +9

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

Naoki Yamaguchi, Keiko Kobayashi, Tomotsugu Yasuda et al. · Human Mutation · 2002 · 101 citations

Life Sciences, Genetics, Molecular Genetics +17