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pro vyhledávání: '"C2/C0"'
Autor:
Yasuhiko, Ago, Hiroki, Otsuka, Hideo, Sasai, Elsayed, Abdelkreem, Mina, Nakama, Yuka, Aoyama, Hideki, Matsumoto, Ryoji, Fujiki, Osamu, Ohara, Kazumasa, Akiyama, Kaori, Fukui, Yoriko, Watanabe, Yoko, Nakajima, Hidenori, Ohnishi, Tetsuya, Ito, Toshiyuki, Fukao
Publikováno v:
Experimental and Therapeutic Medicine
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMGCS2) deficiency is a metabolic disorder caused by mutations in the HMGCS2 gene. The present study describes the identification of four cases of HMGCS2 deficiency in Japan. Hepatomegaly and sev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4f158afd948be2be6657faa82b977a97
https://pubmed.ncbi.nlm.nih.gov/32952630
https://pubmed.ncbi.nlm.nih.gov/32952630
Autor:
Ago Y; Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Gifu 501-1194, Japan., Otsuka H; Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Gifu 501-1194, Japan., Sasai H; Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Gifu 501-1194, Japan.; Clinical Genetics Center, Gifu University Hospital, Gifu, Gifu 501-1194, Japan., Abdelkreem E; Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag 82524, Egypt., Nakama M; Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Gifu 501-1194, Japan.; Clinical Genetics Center, Gifu University Hospital, Gifu, Gifu 501-1194, Japan., Aoyama Y; Department of Biomedical Sciences, College of Life and Health Sciences, Education and Training Center of Medical Technology, Chubu University, Kasugai, Aichi 487-8501, Japan., Matsumoto H; Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Gifu 501-1194, Japan., Fujiki R; Department of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Chiba 292-0818, Japan., Ohara O; Department of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Chiba 292-0818, Japan., Akiyama K; Akiyama Children's Clinic, Kitami, Hokkaido 090-0051, Japan., Fukui K; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka 830-0011, Japan., Watanabe Y; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka 830-0011, Japan.; Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Kurume, Fukuoka 830-0011, Japan., Nakajima Y; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Aichi 470-1192, Japan., Ohnishi H; Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Gifu 501-1194, Japan., Ito T; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Aichi 470-1192, Japan., Fukao T; Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Gifu 501-1194, Japan.; Clinical Genetics Center, Gifu University Hospital, Gifu, Gifu 501-1194, Japan.
Publikováno v:
Experimental and therapeutic medicine [Exp Ther Med] 2020 Nov; Vol. 20 (5), pp. 39. Date of Electronic Publication: 2020 Sep 01.