Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Eriko Totsune"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100970- (2023)
Phenylketonuria is an inborn error of phenylalanine metabolism caused by a phenylalanine hydroxylase deficiency. To prevent the occurrence of neurological symptoms and maternal complications resulting from phenylketonuria, patients must adhere to a s
Externí odkaz:
https://doaj.org/article/8d6f473e20fe41c59157c1350680937f
Autor:
Eriko Totsune, Tomohiro Nakano, Kunihiko Moriya, Daichi Sato, Dai Suzuki, Akinobu Miura, Saori Katayama, Hidetaka Niizuma, Junko Kanno, Menno C. van Zelm, Kohsuke Imai, Hirokazu Kanegane, Yoji Sasahara, Shigeo Kure
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency is a subtype of common variable immune deficiency (CVID). Numerous case reports and cohort studies have described a broad spectrum of clinical manifestations and variable disease pheno
Externí odkaz:
https://doaj.org/article/9715a48c5f38436bbd65b95756762c07
Autor:
Yoichi Wada, Atsuo Kikuchi, Akimune Kaga, Naoki Shimizu, Junya Ito, Ryo Onuma, Fumiyoshi Fujishima, Eriko Totsune, Ryo Sato, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Kota Sato, Toru Nakazawa, Keiko Nakayama, Yoko Aoki, Setsuya Aiba, Kiyotaka Nakagawa, Shigeo Kure
Publikováno v:
PLoS Genetics, Vol 16, Iss 2, p e1008628 (2020)
Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthes
Externí odkaz:
https://doaj.org/article/22d7d4f36d164f7dbc951b96470b2d6a
Autor:
Kota Sato, Setsuya Aiba, Matsuyuki Shirota, Naoki Shimizu, Ryo Onuma, Ryo Sato, Akimune Kaga, Tetsuya Niihori, Eriko Totsune, Junya Ito, Ryo Funayama, Atsuo Kikuchi, Yoko Aoki, Toru Nakazawa, Yoichi Wada, Fumiyoshi Fujishima, Keiko Nakayama, Shigeo Kure, Kiyotaka Nakagawa
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 16, Iss 2, p e1008628 (2020)
PLoS Genetics, Vol 16, Iss 2, p e1008628 (2020)
Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthes