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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.Human Molecular Genetics|September 14, 2014
Identification and characterization of PKCγ, a kinase associated with SCA14, as an amyloidogenic proteinHideyuki Takahashi, Naoko Adachi, Toshihiko Shirafuji, et al.Journal of Human Genetics|October 21, 2011
SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndromeNatsuko Hashimoto, Kuriko Kagitani-Shimono, Norio Sakai, et al.Human Genome Variation|May 16, 2024
Characteristic craniofacial defects associated with a novel USP9X truncation mutationNamiki Nagata, Hiroshi Kurosaka, Kotaro Higashi, et al.Frontiers in Pharmacology|November 29, 2023
Features and mechanisms of propofol-induced protein kinase C (PKC) translocation and activation in living cellsSoma Noguchi, Taketoshi Kajimoto, Takuya Kumamoto, et al.Pediatric Transplantation|January 26, 2016
Hematopoietic stem cell transplantation for inborn errors of metabolism: A report from the Research Committee on Transplantation for Inborn Errors of Metabolism of the Japanese Ministry of Health, Labour and Welfare and the Working Group of the Japan Society for Hematopoietic Cell TransplantationShunichi Kato, Hiromasa Yabe, Hiromitsu Takakura, et al.Human Molecular Genetics|September 13, 2024
Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial syndrome with a variant in ACTBTakayuki Tsujimoto, Yushi Ou, Makoto Suzuki, et al.Biochemical and Biophysical Research Communications|June 17, 2021
Structural dynamics of the chromo-shadow domain and chromodomain of HP1 bound to histone H3K9 methylated peptide, as measured by site-directed spin-labeling EPR spectroscopyIsao Suetake, Shigeaki Nakazawa, Kazunobu Sato, 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.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 28, 2020
Urinary mulberry bodies as a potential biomarker for early diagnosis and efficacy assessment of enzyme replacement therapy in Fabry nephropathyHiroaki Yonishi, Tomoko Namba-Hamano, Takayuki Hamano, et al.Pageof 28