Motohiro Akagi

Novel Mutations of the Chloride Channel Kb Gene in Two Japanese Patients Clinically Diagnosed as Bartter Syndrome with Hypocalciuria

Shigeru Fukuyama, Misako Hiramatsu, Motohiro Akagi et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 60 citations

Severe mandibuloacral dysplasia caused by novel compound heterozygous <i>ZMPSTE24 </i>mutations in two Japanese siblings

Yoko Miyoshi, Motohiro Akagi, AK Agarwal et al. · Clinical Genetics · 2008 · 48 citations · Full text

Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome

Koji Inui, Motohiro Akagi, Jiro Ono et al. · Brain and Development · 2001 · 27 citations

Atypical Rett Syndrome, Mutational Analysis, Genetic Disorder +6

A new variant neuropathic type of Gaucher’s disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules

Koji Inui, Keiko Yanagihara, Kazumasa Otani et al. · The Journal of Pediatrics · 2001 · 24 citations

Corneal Opacities, Ophthalmology, Medicine +4

A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings

Koji Inui, Motohiro Akagi, Toshinori Nishigaki et al. · Brain and Development · 2000 · 23 citations

Chronic Infantile Type, Pediatrics