研究者
J-GLOBAL ID:201601015616640519   更新日: 2020年08月31日

笹井 英雄

Hideo Sasai
所属機関・部署:
論文 (5件):
  • Ago Y, Sugie H, Fukuda T, Otsuka H, Sasai H, Nakama M, Abdelkreem E, Fukao T. A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia. JIMD reports. 2019. 48. 1. 15-18
  • Alijanpour M, Sasai H, Abdelkreem E, Ago Y, Soleimani S, Moslemi L, Yamaguchi S, Rezapour M, Hakimi MT, Matsumoto H, Fukao T. Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency. JIMD reports. 2019. 46. 1. 23-27
  • Fukao T, Sasai H, Aoyama Y, Otsuka H, Ago Y, Matsumoto H, Abdelkreem E. Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency. Journal of human genetics. 2019. 64. 2. 99-111
  • Nakama M, Otsuka H, Ago Y, Sasai H, Abdelkreem E, Aoyama Y, Fukao T. Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons. Gene. 2018. 664. 84-89
  • Lee T, Misaki M, Shimomura H, Tanaka Y, Yoshida S, Murayama K, Nakamura K, Fujiki R, Ohara O, Sasai H, Fukao T, Takeshima Y. Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation. Human genome variation. 2018. 5. 22
MISC (5件):
学位 (1件):
  • 医学博士 (岐阜大学)
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