文献
J-GLOBAL ID:202002271112834224
整理番号:20A0021479
MT-ATP6遺伝子におけるm.9185T>C変異体と関連した乳児痙攣を合併した早期乳児発症Leigh症候群:臨床スペクトラムの拡大
Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrum
著者 (10件):
Takada Rei
(Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan)
,
Takada Rei
(Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan)
,
Tozawa Takenori
(Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan)
,
Kondo Hidehito
(Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan)
,
Kizaki Zenro
(Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan)
,
Kishita Yoshihito
(Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan)
,
Okazaki Yasushi
(Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan)
,
Murayama Kei
(Department of Metabolism, Chiba Children’s Hospital, Chiba, Japan)
,
Ohtake Akira
(Department of Pediatrics & Clinical Genomics, Saitama Medical University Hospital, Iruma, Japan)
,
Chiyonobu Tomohiro
(Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan)
資料名:
Brain & Development
(Brain & Development)
巻:
42
号:
1
ページ:
69-72
発行年:
2020年01月
JST資料番号:
W0814A
ISSN:
0387-7604
資料種別:
逐次刊行物 (A)
記事区分:
短報
発行国:
オランダ (NLD)
言語:
英語 (EN)