Keiichi Ozono

Novel mutations in the a3 subunit of vacuolar H+-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis

Toshimi Michigami, Takashi Kageyama, Kenichi Satomura et al. · Bone · 2002 · 47 citations

A3 Subunit, Novel Mutations, Molecular Biology +5

Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene

Hiroshi Mochizuki, Mariko Saito, Toshimi Michigami et al. · European Journal of Pediatrics · 2000 · 38 citations

Genetics, Inherited Metabolic Disease, Physiology +5

Hypophosphatemic rickets accompanying McCune?Albright syndrome: evidence that a humoral factor causes hypophosphatemia

Takehisa Yamamoto, Ken‐ichi Miyamoto, Keiichi Ozono et al. · Journal of Bone and Mineral Metabolism · 2001 · 37 citations

Electrolyte Disorder, Ophthalmology, Humoral Factor +7

A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia

Hiromasa Hirai, Shinya Nakajima, A. Miyauchi et al. · Journal of Human Genetics · 2001 · 29 citations · Full text

Molecular Physiology, Signal Transduction, Novel Activating Mutation +7

Effect of single oral phosphate loading on vitamin D metabolites in normal subjects and in X-linked hypophosphatemic rickets

Kanji Yamaoka, Hiroyuki Tanaka, Hirofumi Kurose et al. · Bone and Mineral · 1989 · 20 citations

Nutrition, Biochemistry, Metabolic Bone Disease +11