Elosulfase alfa enzyme replacement therapy attenuates disease progression in a non-ambulatory Japanese patient with Morquio A syndrome (case report)

by Misako Hiramatsu, Kimitoshi Nakamura
Published 2017-12-01

Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia

by Jun Kido, Shirou Matsumoto, Kimitoshi Nakamura
Published 2020-01-01

Newborn Screening for Pompe Disease

by Takaaki Sawada, Jun Kido, Kimitoshi Nakamura
Published 2020-04-01

Liposteroid and methylprednisolone combination therapy for a case of idiopathic lung hemosiderosis

by Rieko Sakamoto, Shiro Matsumoto, Hiroshi Mitsubuchi, Kimitoshi Nakamura
Published 2018-01-01

Involvement of Anoikis in Dissociated Optic Nerve Fiber Layer Appearance

by Tsunehiko Ikeda, Kimitoshi Nakamura, Takaki Sato, Teruyo Kida, Hidehiro Oku
Published 2021-02-01

Associations among amino acid, lipid, and glucose metabolic profiles in childhood obesity

by Yosuke Suzuki, Jun Kido, Shirou Matsumoto, Kie Shimizu, Kimitoshi Nakamura
Published 2019-08-01

Hyperglycemic hyperosmolar state in an adolescent with type 1 diabetes mellitus

by Suguru Watanabe, Jun Kido, Mika Ogata, Kimitoshi Nakamura, Tomoyuki Mizukami
Published 2019-03-01

Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH

by Rina Hama, Jun Kido, Keishin Sugawara, Toshiro Nakamura, Kimitoshi Nakamura
Published 2021-07-01

Immune-regulatory microRNA expression levels within circulating extracellular vesicles correspond with the appearance of local symptoms after seasonal flu vaccination.

by Yusuke Miyashita, Kana Ishikawa, Yoshimi Fukushima, Takahisa Kouwaki, Kimitoshi Nakamura, Hiroyuki Oshiumi
Published 2019-01-01

SGLT2 inhibition alleviated hyperglycemia, glucose intolerance, and dumping syndrome-like symptoms in a patient with glycogen storage disease type Ia: a case report

by Daisuke Katayama, Hiroo Baba, Takashige Kuwabara, Jun Kido, Hiroshi Mitsubuchi, Shirou Matsumoto, Kimitoshi Nakamura
Published 2021-02-01

Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report

by Shouichirou Kusunoki, Jun Kido, Ken Momosaki, Takaaki Sawada, Tomoko Kashiki, Shirou Matsumoto, Kimitoshi Nakamura
Published 2020-09-01

Early-onset neonatal hyperkalemia associated with maternal hypermagnesemia: a case report

by Kenichi Tanaka, Hiroko Mori, Rieko Sakamoto, Shirou Matsumoto, Hiroshi Mitsubuchi, Kimitoshi Nakamura, Masanori Iwai
Published 2018-02-01

Reversal of blood flow in deep cerebral vein in preterm intraventricular hemorrhage: two case reports

by Kenichi Tanaka, Rieko Sakamoto, Hiroko Imamura, Tetsuo Naramura, Shirou Matsumoto, Masanori Iwai, Hiroshi Mitsubuchi, Kimitoshi Nakamura
Published 2020-11-01

Fabry disease screening in high-risk populations in Japan: a nationwide study

by Shinichiro Yoshida, Jun Kido, Takaaki Sawada, Ken Momosaki, Keishin Sugawara, Shirou Matsumoto, Fumio Endo, Kimitoshi Nakamura
Published 2020-08-01

The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report

by Ken Momosaki, Jun Kido, Shiro Matsumoto, Atsuo Taniguchi, Tomoyuki Akiyama, Takaaki Sawada, Shiro Ozasa, Kimitoshi Nakamura
Published 2019-09-01

Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening

by Takaaki Sawada, Jun Kido, Keishin Sugawara, Shirou Matsumoto, Fumio Takada, Kazuya Tsuboi, Akira Ohtake, Fumio Endo, Kimitoshi Nakamura
Published 2020-11-01

Involvement of premacular mast cells in the pathogenesis of macular diseases.

by Takaki Sato, Seita Morishita, Taeko Horie, Masanori Fukumoto, Teruyo Kida, Hidehiro Oku, Kimitoshi Nakamura, Shinji Takai, Denan Jin, Tsunehiko Ikeda
Published 2019-01-01

Expression of Lymphatic Markers in the Berger’s Space and Bursa Premacularis

by Seita Morishita, Takaki Sato, Shou Oosuka, Taeko Horie, Teruyo Kida, Hidehiro Oku, Kimitoshi Nakamura, Shinji Takai, Denan Jin, Tsunehiko Ikeda
Published 2021-02-01

Involvement of the Retinal Pigment Epithelium in the Development of Retinal Lattice Degeneration

by Hiroshi Mizuno, Masanori Fukumoto, Takaki Sato, Taeko Horie, Teruyo Kida, Hidehiro Oku, Kimitoshi Nakamura, Denan Jin, Shinji Takai, Tsunehiko Ikeda
Published 2020-10-01

A comparison of sex steroid concentration levels in the vitreous and serum of patients with vitreoretinal diseases.

by Yuko Nishikawa, Seita Morishita, Taeko Horie, Masanori Fukumoto, Takaki Sato, Teruyo Kida, Hidehiro Oku, Jun Sugasawa, Tsunehiko Ikeda, Kimitoshi Nakamura
Published 2017-01-01