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Internal Medicine (Tokyo, Japan)|December 4, 2015
A Sporadic Case of Fabry Disease Involving Repeated Fever, Psychiatric Symptoms, Headache, and Ischemic Stroke in an Adult Japanese WomanJun Sawada, Takayuki Katayama, Kohei Kano, et al.
Journal of Inherited Metabolic Disease|April 28, 2023
Blood glucose trends in glycogen storage disease type Ia: A cross-sectional studyTokiko Fukuda, Tetsuya Ito, Takashi Hamazaki, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|January 10, 2021
Guide for diagnosis and treatment of hyperphenylalaninemiaHaruo Shintaku, Toshihiro Ohura, Masaki Takayanagi, et al.
Molecular Therapy. Nucleic Acids|December 29, 2025
Lipid nanoparticle-encapsulated microRNA-192: An anti-inflammatory adjuvant that enhances vaccine efficacy in aged miceYuriko Takagi, Tasuku Nishimura, Suraiya Aktar, et al.
Journal of Inherited Metabolic Disease|February 10, 2022
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in JapanJun Kido, Johannes Häberle, Keishin Sugawara, et al.
Nature Communications|September 21, 2022
The SARS-CoV-2 Omicron BA.1 spike G446S mutation potentiates antiviral T-cell recognitionChihiro Motozono, Mako Toyoda, Toong Seng Tan, et al.
Journal of Human Genetics|April 5, 2020
The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years agoKung-Hao Liang, Yung-Hsiu Lu, Chih-Wei Niu, et al.
Molecular Genetics and Metabolism|April 2, 2026
Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spotsJun Kido, Hiromasa Nakashima, Johannes Häberle, et al.
Molecular Genetics and Metabolism|June 6, 2021
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in JapanYuta Koto, Norio Sakai, Yoko Lee, et al.
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