Yao-bang Lu

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

T. Saheki, Keiko Kobayashi, M. Iijima, 2008, Journal of Human Genetics.

Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.

K. Hsiao, T. Saheki, Keiko Kobayashi, 2004, Molecular genetics and metabolism.

Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients.

T. Saheki, Keiko Kobayashi, S. Kanzaki, 2004, Molecular genetics and metabolism.

Fasting-induced reduction in locomotor activity and reduced response of orexin neurons in carnitine-deficient mice

T. Saheki, S. Nakagawa, Zhi-Li Huang, 2006, Neuroscience Research.

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

Dong Hwan Lee, L. Tsui, K. Hsiao, 2005, Journal of Human Genetics.