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Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|September 4, 2024
Health-related quality of life and caregiver burden of pediatric patients with inborn errors of metabolism in Japan using EQ-5D-Y, PedsQL, and J-ZBIKeiko Konomura, Chikahiko Numakura, Akari Nakamura-Utsunomiya, et al.
Journal of Inherited Metabolic Disease|April 11, 2021
Long-term outcome of urea cycle disorders: Report from a nationwide study in JapanJun Kido, Shirou Matsumoto, Johannes Häberle, et al.
Molecular Genetics and Metabolism|February 16, 2011
Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spotsShohei Shigeto, Tatsuya Katafuchi, Yuya Okada, et al.
Internal Medicine (Tokyo, Japan)|March 1, 2021
Screening for Gaucher Disease Using Dried Blood Spot Tests: A Japanese Multicenter, Cross-sectional SurveyToshihiro Miyamoto, Masaki Iino, Yasuji Komorizono, et al.
The Journal of Reproduction and Development|May 21, 2008
Production efficiency and telomere length of the cloned pigs following serial somatic cell nuclear transferMayuko Kurome, Hisashi Hisatomi, Shirou Matsumoto, et al.
Pediatric Blood & Cancer|December 11, 2023
Non-conditioned cord blood transplantation for infection control in athymic CHARGE syndromeMotoshi Sonoda, Masataka Ishimura, Hirosuke Inoue, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|December 23, 2022
Outcomes of pediatric obesity-related lifestyle disease screenings in KumamotoFusa Nagamatsu, Jun Kido, Yoshiko Suginohara, et al.
Journal of Inherited Metabolic Disease|September 8, 2023
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screeningJun Kido, Johannes Häberle, Toju Tanaka, et al.
JIMD Reports|June 17, 2026
Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension StudyYoichi Wada, Mahoko Furujo, Kenichi Kashimada, et al.
Stem Cells (Dayton, Ohio)|December 19, 2014
HPGCD outperforms HPBCD as a potential treatment for Niemann-Pick disease type C during disease modeling with iPS cellsMinami Soga, Yoichi Ishitsuka, Makoto Hamasaki, et al.
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