Showing results (71-80 of 89) with videos related to
Sort By:
Pageof 9
Journal of Human Genetics|May 12, 2019
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patientsKen Momosaki, Jun Kido, Shinichiro Yoshida, et al.Molecular Genetics and Metabolism|August 21, 2025
The status of adult patients with citrin deficiency in Japan: A report from the nation-wide studyJun Kido, Johannes Häberle, Keishin Sugawara, et al.Molecular Genetics and Metabolism Reports|October 14, 2021
Current status of surviving patients with arginase 1 deficiency in JapanJun Kido, Shirou Matsumoto, Eiko Takeshita, et al.Journal of Inherited Metabolic Disease|October 11, 2025
The Current Status of Adult Patients With Urea Cycle Disorders in Japan: From the Nation-Wide StudyJun Kido, Johannes Häberle, Keishin Sugawara, et al.Brain & Development|August 28, 2021
Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case reportTomoko Kashiki, Jun Kido, Ken Momosaki, et al.Molecular Genetics and Metabolism Reports|February 22, 2021
Physical, cognitive, and social status of patients with urea cycle disorders in JapanJun Kido, Shirou Matsumoto, Tetsuya Ito, et al.Molecular Genetics and Metabolism|July 6, 2025
The current social status in adult patients with urea cycle disorders in JapanJun Kido, Johannes Häberle, Keishin Sugawara, et al.Molecular Genetics and Metabolism Reports|August 18, 2025
Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysisTakaaki Sawada, Jun Kido, Takahiro Tsukimura, et al.Molecular Genetics and Metabolism Reports|January 21, 2020
Newborn screening for Fabry disease in the western region of JapanTakaaki Sawada, Jun Kido, Shinichiro Yoshida, et al.Journal of Inherited Metabolic Disease|December 15, 2011
Long-term outcome and intervention of urea cycle disorders in JapanJun Kido, Kimitoshi Nakamura, Hiroshi Mitsubuchi, et al.Pageof 9