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1 . Academic Journal
A new variant neuropathic type of Gaucher’s disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules
저자
by
Inui, Koji
;
Yanagihara, Keiko
;
Otani, Kazumasa
;
Suzuki, Yasuhiro
;
Akagi, Motohiro
, et al.
소스
In
The Journal of Pediatrics
January 2001 138(1):137-139
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7 . Academic Journal
Clinicogenetical features of a Japanese patient with giant axonal neuropathy
저자
by
Akagi, Motohiro
;
Mohri, Ikuko
;
Iwatani, Yoshiko
;
Kagitani-Shimono, Kuriko
;
Okinaga, Takeshi
, et al.
소스
In
Brain and Development
2012 34(2):156-162
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7 . Academic Journal
Coexistence of TDP-43 and tau pathology in neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome)
저자
by
Haraguchi, Takashi
;
Terada, Seishi
;
Ishizu, Hideki
;
Yokota, Osamu
;
Yoshida, Hidenori
, et al.
소스
Neuropathology
. Oct 01, 2011 31(5):531-539
Web of Science
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7 . Academic Journal
Novel Mutations of the Chloride Channel Kb Gene in Two Japanese Patients Clinically Diagnosed as Bartter Syndrome with Hypocalciuria
저자
by
Fukuyama, Shigeru
;
Hiramatsu, Misako
;
Akagi, Motohiro
;
Higa, Mutumi
;
Ohta, Takao
.
소스
The Journal of Clinical Endocrinology & Metabolism
. Nov 01, 2004 89(11):5847-5850
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7 . Academic Journal
Mutation analysis of a Japanese patient with fucosidosis.
저자
by
Akagi, Motohiro
;
Inui, K.
;
Nishigaki, Toshinori
;
Muramatsu, Takashi
;
Kokubu, Chikara
, et al.
소스
Journal of Human Genetics
. 1999, Vol. 44 Issue 5, p323. 4p.
Web of Science
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7 . Academic Journal
Intravenous Flunitrazepam for Status Epilepticus.
저자
by
Sumi, Kiyoomi
;
Nagaura, Tomoaki
;
Sakata, Naoki
;
Nishigaki, Toshinori
;
Akagi, Motohiro
.
소스
Pediatrics International; Oct1989, Vol. 31 Issue 5, p563-566, 4p
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7 . Academic Journal
Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease
저자
by
Kawai, Masanobu
;
Sakai, Norio
;
Miyake, Susumu
;
Tsukamoto, Hiroko
;
Akagi, Motohiro
, et al.
소스
Brain & Development
. Jan2006, Vol. 28 Issue 1, p60-62. 3p.
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7 . Academic Journal
Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome.
저자
by
Akagi, Motohiro
;
Inui, Koji
;
Nakajima, Shigeo
;
Shima, Masaaki
;
Nishigaki, Toshinori
, et al.
소스
Journal of Human Genetics
. 2000, Vol. 45 Issue 1, p60. 3p.
Web of Science
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