Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types.

by Rena Okawa, Kazuma Kokomoto, Taichi Kitaoka, Takuo Kubota, Atsushi Watanabe, Takeshi Taketani, Toshimi Michigami, Keiichi Ozono, Kazuhiko Nakano
Published 2019-01-01

Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report

by Kazunori Fukushima, Keiko Kawai-Kowase, Yukio Yonemoto, Makoto Fujiwara, Hiroko Sato, Mahito Sato, Takuo Kubota, Keiichi Ozono, Junich Tamura
Published 2019-04-01

Long-term outcomes for Asian patients with X-linked hypophosphataemia: rationale and design of the SUNFLOWER longitudinal, observational cohort study

by Takuo Kubota, Seiji Fukumoto, Hae Il Cheong, Toshimi Michigami, Noriyuki Namba, Nobuaki Ito, Shin Tokunaga, Yoshimi Gibbs, Keiichi Ozono
Published 2020-06-01

An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.

by Kohji Miura, Noriyuki Namba, Makoto Fujiwara, Yasuhisa Ohata, Hidekazu Ishida, Taichi Kitaoka, Takuo Kubota, Haruhiko Hirai, Chikahisa Higuchi, Noriyuki Tsumaki, Hideki Yoshikawa, Norio Sakai, Toshimi Michigami, Keiichi Ozono
Published 2012-01-01