The Tohoku journal of experimental medicine 256(1) 37-41 2022年1月
Maturity-onset diabetes of the young (MODY) is a form of diabetes mellitus characterized by autosomal dominant inheritance, early onset, and the absence of pancreatic autoimmune markers. MODY-causing mutations have been identified in 14 genes, and...
Molecular genetics and metabolism reports 29 100805-100805 2021年12月
Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD), with an estimated frequency of 1 per 2,200,000 births in Japan. Patients with ARG1 deficiency develop symptoms in late infancy or pre-school age with progressive neurological manife...
Molecular genetics and metabolism reports 29 100799-100799 2021年12月 [査読有り]
Urea cycle disorders (UCDs), inborn errors of hepatocyte metabolism, cause hyperammonemia and lead to neurocognitive deficits, coma, and even death. Sodium 4-phenylbutyrate (NaPB), a standard adjunctive therapy for UCDs, generates an alternative p...
Jun Kido Shirou Matsumoto Johannes Häberle Yoko Nakajima Yoichi Wada Narutaka Mochizuki Kei Murayama Tomoko Lee Hiroshi Mochizuki Yoriko Watanabe Reiko Horikawa Mureo Kasahara Kimitoshi Nakamura
Journal of inherited metabolic disease 44(4) 826-837 2021年7月 [査読有り]
Urea cycle disorders (UCDs) are inherited metabolic disorders with impaired nitrogen detoxification caused by defects in urea cycle enzymes. They often manifest with hyperammonemic attacks resulting in significant morbidity or death. We performed ...
お知らせ・マニュアル
医学部