Mika Ishige Tetsuya Ito Takashi Hamazaki Mitsuhiro Kuwahara Lawrence Lee Haruo Shintaku
Molecular genetics and metabolism 140(3) 107697-107697 2023年11月
Phenylketonuria (PKU) is an inborn error of metabolism caused by deficiency of phenylalanine hydroxylase, resulting in high blood phenylalanine (Phe) concentrations with potential for impaired neurocognition. Pegvaliase, a pegylated recombinant ph...
Tokiko Fukuda Tetsuya Ito Takashi Hamazaki Ayano Inui Mika Ishige Reiko Kagawa Norio Sakai Yoriko Watanabe Hironori Kobayashi Yosuke Wasaki Junki Taura Yuki Imamura Tsutomu Tsukiuda Kimitoshi Nakamura
Journal of inherited metabolic disease 46(4) 618-633 2023年7月
BACKGROUND: Glycogen storage disease type Ia (GSDIa) is caused by biallelic pathogenic variants in the glucose-6-phosphatase gene (G6PC) and mainly characterized by hypoglycemia, hepatomegaly, and renal insufficiency. Although its symptoms are rep...
Mutations in transport and Golgi organization 2 homolog (TANGO2) have recently been described as a cause of an autosomal recessive syndrome characterized by episodes of metabolic crisis associated with rhabdomyolysis, cardiac arrhythmias, and neur...
Katsuyuki Yokoi Yoko Nakajima Yuta Sudo Tasuku Mariya Rie Kawamura Makiko Tsutsumi Hidehito Inagaki Tetsushi Yoshikawa Tetsuya Ito Hiroki Kurahashi
JIMD reports 63(6) 575-580 2022年11月
Maple syrup urine disease (MSUD) is a rare autosomal recessive inherited disorder of branched-chain amino acid metabolism caused by mutations in BCKDHA, BCKDHB, and DBT that encode the E1α, E1β, and E2 subunits of the branched-chain α-ketoacid deh...
The Tohoku journal of experimental medicine 258(3) 183-193 2022年10月
Thrombotic microangiopathy (TMA) is a disease that causes organ damage due to microvascular hemolytic anemia, thrombocytopenia, and microvascular platelet thrombosis. Streptococcus pneumoniae-associated TMA (spTMA) is a rare complication of invasi...
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