• 5915 Citations
  • 41 h-Index
1991 …2019
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  • 11 Similar Profiles
Genes Medicine & Life Sciences
Chromosomes, Human, Pair 22 Medicine & Life Sciences
Mutation Medicine & Life Sciences
Pre-Eclampsia Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Human Herpesvirus 6 Medicine & Life Sciences
Meiosis Medicine & Life Sciences
Kidney Medicine & Life Sciences

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Research Output 1991 2019

A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis

Tsuchiya, H., Akiyama, T., Kuhara, T., Nakajima, Y., Ohse, M., Kurahashi, H., Kato, T., Maeda, Y., Yoshinaga, H. & Kobayashi, K., 01-03-2019, In : Brain and Development. 41, 3, p. 280-284 5 p.

Research output: Contribution to journalArticle

Metabolome
Urine
Mutation
Fluorouracil
Metabolomics

A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant

Ishihara, N., Inagaki, H., Miyake, M., Kawamura, Y., Yoshikawa, T. & Kurahashi, H., 01-03-2019, In : Brain and Development. 41, 3, p. 285-291 7 p.

Research output: Contribution to journalArticle

Epilepsy
Mutation
Genes
Respiratory Insufficiency
Parents

A constitutional jumping translocation involving the y and acrocentric chromosomes

Tsutsumi, M., Fujita, N., Suzuki, F., Mishima, T., Fujieda, S., Watari, M., Takahashi, N., Tonoki, H., Moriwaka, O., Endo, T. & Kurahashi, H., 01-01-2019, In : Asian Journal of Andrology. 21, 1, p. 101-103 3 p.

Research output: Contribution to journalLetter

Chromosomes

Disruption of the responsible gene in a phosphoglucomutase 1 deficiency patient by homozygous chromosomal inversion

Yokoi, K., Nakajima, Y., Oe, T., Inagaki, H., Wada, Y., Fukuda, T., Sugie, H., Yuasa, I., Ito, T. & Kurahashi, H., 01-01-2019, JIMD Reports. Springer, p. 85-90 6 p. (JIMD Reports; vol. 43).

Research output: Chapter in Book/Report/Conference proceedingChapter

Phosphoglucomutase
Genes
Mutation
Congenital Disorders of Glycosylation
Glycogen Storage Disease
2 Citations (Scopus)

DNA methylation accumulation in gastric mucosa adjacent to cancer after Helicobacter pylori eradication

Tahara, S., Tahara, T., Horiguchi, N., Kato, T., Shinkai, Y., Yamashita, H., Yamada, H., Kawamura, T., Terada, T., Okubo, M., Nagasaka, M., Nakagawa, Y., Shibata, T., Yamada, S., Urano, M., Tsukamoto, T., Kurahashi, H., Kuroda, M. & Ohmiya, N., 01-01-2019, In : International Journal of Cancer. 144, 1, p. 80-88 9 p.

Research output: Contribution to journalArticle

DNA Methylation
Gastric Mucosa
Helicobacter pylori
Methylation
Stomach