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41 .
[A case of adult-onset type II citrullinemia triggered by entering a nursing home with a good response to medium-chain triglyceride oil therapy]
저자
by
Yukihiro Yoneda
;
Shigeo Kure
;
Yoshihisa Otsuka
;
Mariko Akaogi
;
Hiroaki Sekiya
, et al.
소스
Rinsho shinkeigaku = Clinical neurology
. 61(3)
Open Access (OpenAIRE)
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47 .
Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age
저자
by
Shigeo Kure
;
Natsuko Arai-Ichinoi
;
Yoichi Wada
;
Atsuo Kikuchi
;
Osamu Sakamoto
.
소스
Journal of inherited metabolic diseaseREFERENCES
. 44(4)
Scopus
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47 .
A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes
저자
by
Makoto Suematsu
;
Kazuhiro Haginoya
;
Yuki Sugiura
;
Tomoyasu Noji
;
Shigeo Kure
, et al.
소스
J Clin Invest
Open Access (OpenAIRE)
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47 .
Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
저자
by
Fumiki Katsuoka
;
Shigeo Kure
;
Chinatsu Gocho
;
Satoshi Makino
;
Takamitsu Funayama
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
Nature Communications
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47 .
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes
저자
by
Shigeaki Nonoyama
;
Yoko Aoki
;
Ryo Funayama
;
Tetsuya Niihori
;
Yasuko Kobayashi
, et al.
소스
Annals of Neurology
. 85:927-933
Full Text (Wiley)
Web of Science
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47 .
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome
저자
by
Hiromi Fujie
;
Atsuo Kikuchi
;
Masayuki Sasaki
;
Yoko Aoki
;
Yusuke Takezawa
, et al.
소스
Brain and Development
. 40:934-938
Full Text (Clinical Key)
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47 . Academic Journal
Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency.
저자
by
Zhan-Hui Zhang
;
Zhi-Gang Yang
;
Feng-Ping Chen
;
Atsuo Kikuchi
;
Zhen-Huan Liu
, et al.
소스
Tohoku Journal of Experimental Medicine; Aug2014, Vol. 233 Issue 4, p275-281, 7p
Open Access (JSTAGE)
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47 .
Hypoketotic hypoglycemia in citrin deficiency: a case report
저자
by
Natsuko Arai-Ichinoi
;
Yoichi Wada
;
Osamu Sakamoto
;
Atsuo Kikuchi
;
Shigeo Kure
.
소스
BMC Pediatrics
BMC Pediatrics, Vol 20, Iss 1, Pp 1-4 (2020)
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47 . Academic Journal
Rapid and sensitive intraoperative detection of mutations in the isocitrate dehydrogenase 1 and 2 genes during surgery for glioma.
저자
by
MASAYUKI KANAMORI
;
ATSUO KIKUCHI
;
MIKA WATANABE
;
ICHIYO SHIBAHARA
;
RYUTA SAITO
, et al.
소스
Journal of Neurosurgery; Jun2014, Vol. 120 Issue 6, p1288-1297, 10p
Web of Science
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47 .
Defining the phenotype of FHF1 developmental and epileptic encephalopathy
저자
by
Marina Trivisano
;
Julien Jung
;
Lieven Lagae
;
Marco Tartaglia
;
Nathalie Villeneuve
, et al.
소스
Epilepsia
Epilepsia, 2020, 61 (7), ⟨10.1111/epi.16582⟩
Epilepsia, Wiley, 2020, 61 (7), ⟨10.1111/epi.16582⟩
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