Yoshihiro Maruo
Department of Pediatrics
Shiga University of Medical Science
Tsukinowa
Seta, Otsu, Shiga 520-2192
Japan
Name/email consistency: high
- Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. Maruo, Y., Takahashi, H., Soeda, I., Nishikura, N., Matsui, K., Ota, Y., Mimura, Y., Mori, A., Sato, H., Takeuchi, Y. J. Clin. Endocrinol. Metab. (2008)
- Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1. Maruo, Y., Topaloglu, A.K., Takahashi, H., Mori, A., Iwai, M., Duzovali, O., Yamamoto, K., Matui, K., Sato, H., Takeuchi, Y. J. Pediatr. Gastroenterol. Nutr. (2006)
- Polymorphism of UDP-glucuronosyltransferase and drug metabolism. Maruo, Y., Iwai, M., Mori, A., Sato, H., Takeuchi, Y. Curr. Drug Metab. (2005)
- Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. Maruo, Y., D'Addario, C., Mori, A., Iwai, M., Takahashi, H., Sato, H., Takeuchi, Y. Hum. Genet. (2004)
- Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome. Maruo, Y., Poon, K.K., Ito, M., Iwai, M., Takahashi, H., Mori, A., Sato, H., Takeuchi, Y. Clin. Genet. (2003)