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Pediatrics International : Official Journal of the Japan Pediatric Society|February 12, 2016
Clinical and genetic features of lysinuric protein intolerance in JapanAtsuko Noguchi, Kimitoshi Nakamura, Kei Murayama, 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 Atherosclerosis and Thrombosis|February 11, 2026
A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in SitosterolemiaTakeshi Okada, Shizuya Yamashita, Hayato Tada, 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.Human Genome Variation|August 23, 2018
Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutationTomoko Lee, Maiko Misaki, Hideki Shimomura, et al.Cloning and Stem Cells|June 21, 2007
Isolation of tissue progenitor cells from duct-ligated salivary glands of swineShirou Matsumoto, Kenji Okumura, Akira Ogata, 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 <i>GLA</i> variants detected in newborn screening for Fabry disease using biomarker analysisTakaaki Sawada, Jun Kido, Takahiro Tsukimura, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|September 8, 2022
The earliest enzyme replacement for infantile-onset Pompe disease in JapanVlad Tocan, Yuichi Mushimoto, Kanako Kojima-Ishii, et al.Orphanet Journal of Rare Diseases|December 19, 2021
Current status of newborn screening for Pompe disease in JapanTakaaki Sawada, Jun Kido, Keishin Sugawara, et al.Pageof 23