Toshihiro Tajima

Increased Circulatory Level of Biologically Active Full-Length FGF-23 in Patients with Hypophosphatemic Rickets/Osteomalacia

Y. Yamazaki, Ryo Okazaki, Minako Shibata et al. · The Journal of Clinical Endocrinology & Metabolism · 2002 · 675 citations

Medicine, Endocrinology, Pathobiology +14

Heterozygous Mutation in the Cholesterol Side Chain Cleavage Enzyme (P450scc) Gene in a Patient with 46,XY Sex Reversal and Adrenal Insufficiency

Toshihiro Tajima, Kenji Fujieda, Naoya Kouda et al. · The Journal of Clinical Endocrinology & Metabolism · 2001 · 192 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Novel TRPM6 Mutations in 21 Families with Primary Hypomagnesemia and Secondary Hypocalcemia

Karl P. Schlingmann, Martin Sassen, Stefanie Weber et al. · Journal of the American Society of Nephrology · 2005 · 184 citations

Medicine, Genetics, Molecular Genetics +17

Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene.

Kenji Fujieda, Toshihiro Tajima, Jun Nakae et al. · Journal of Clinical Investigation · 1997 · 163 citations · Full text

Medicine, Endocrinology, Pediatrics +17

Urine Steroid Hormone Profile Analysis in Cytochrome P450 Oxidoreductase Deficiency: Implication for the Backdoor Pathway to Dihydrotestosterone

Keiko Homma, Tomonobu Hasegawa, Toshiro Nagai et al. · The Journal of Clinical Endocrinology & Metabolism · 2006 · 155 citations · Full text

Life Sciences, Biochemistry, Endocrinology +17