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Journal of Human Genetics|September 27, 2013
Clinical features and management of organic acidemias in JapanDaisuke Fujisawa, Kimitoshi Nakamura, Hiroshi Mitsubuchi, et al.Molecular Genetics & Genomic Medicine|October 5, 2020
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screeningTakaaki Sawada, Jun Kido, Keishin Sugawara, et al.Molecular Endocrinology (Baltimore, Md.)|October 6, 2006
Hypermetabolism of fat in V1a vasopressin receptor knockout miceMasami Hiroyama, Toshinori Aoyagi, Yoko Fujiwara, et al.Journal of Human Genetics|April 1, 2018
High-risk screening for Gaucher disease in patients with neurological symptomsKen Momosaki, Jun Kido, Shirou Matsumoto, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|December 16, 2006
Newborn hearing screening in a single private Japanese obstetric hospitalHiroyuki Tsuchiya, Koko Goto, Naoki Yunohara, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|September 30, 2016
Prenatal diagnosis of Gaucher disease using next-generation sequencingShinichiro Yoshida, Jun Kido, Shirou Matsumoto, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|February 26, 2015
Early intervention for late-onset ornithine transcarbamylase deficiencyDaisuke Fujisawa, Hiroshi Mitsubuchi, Shirou Matsumoto, et al.Journal of Human Genetics|March 10, 2017
Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patientsKiyoshiro Nagamatsu, Yoshiki Sekijima, Katsuya Nakamura, et al.Journal of Human Genetics|April 17, 2015
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencingKensaku Kohrogi, Eri Imagawa, Yuichiro Muto, et al.Cell Metabolism|April 22, 2014
Methionine metabolism regulates maintenance and differentiation of human pluripotent stem cellsNobuaki Shiraki, Yasuko Shiraki, Tomonori Tsuyama, et al.Pageof 11