Toshihiro Ohura

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

Jun‐ichi Nezu, Ikumi Tamai, Asuka Oku et al. · Nature Genetics · 1999 · 551 citations

Sodium Homeostasis, Genetics, Inherited Metabolic Disease +3

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

Robert Kleta, Elisa Romeo, Zorica Ristic et al. · Nature Genetics · 2004 · 308 citations · Full text

Mendelian Disorder, Genetic Disorder, Cause Hartnup Disorder +7

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Haruo Shintaku, Shigeo Kure, Toshihiro Ohura et al. · Zhongguo dangdai erke zazhi · 2005 · 254 citations

Biosynthesis, Biochemical Genetics, Biochemistry +1

Effects of Individual Mutations in the P-450(C21) Pseudogene on the P-450(C21) Activity and Their Distribution in the Patient Genomes of Congenital Steroid 21-Hydroxylase Deficiency1

Yujiro Higashi, T Hiromasa, Ayako Tanae et al. · The Journal of Biochemistry · 1991 · 207 citations

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan

Akemi Tanaka, Torayuki Okuyama, Yasuyuki Suzuki et al. · Molecular Genetics and Metabolism · 2012 · 145 citations

Neuro-oncology, Brain Involvement, Hematology +10