Ayako Tabata

发表

Citrin Deficiency: A Novel Cause of Failure to Thrive That Responds to a High-Protein, Low-Carbohydrate Diet

T. Saheki, D. Dimmock, F. Scaglia, 2007, Pediatrics.

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.

Phenotype and genotype heterogeneity in Mediterranean citrullinemia.

T. Saheki, P. Briones, M. Vilaseca, 2001, Molecular genetics and metabolism.

Overview of Citrin Deficiency:SLC25A13 Mutations and the Frequency

T. Saheki, Keiko Kobayashi, Sayaka Ikeda, 2008 .

Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13.

T. Saheki, Keiko Kobayashi, J. Takaya, 2005, Metabolism: clinical and experimental.

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.

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.

Pregnancy in a healthy woman with untreated citrullinemia

T. Saheki, Keiko Kobayashi, S. Zeesman, 2004, American journal of medical genetics. Part A.

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.

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype–phenotype correlation in 38 classical citrullinemia patients

S. Seneca, H. Mandel, L. de Meirleir, 2003, Human mutation.