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Molecular Genetics and Metabolism|July 15, 2026
Implementation of a dried blood spot-based Newborn screening program for adenosine deaminase deficiency: An initial experience in JapanYuya Kinoshita, Jun Kido, Takaaki Sawada, et al.Journal of Human Genetics|September 27, 2013
Clinical features and management of organic acidemias in JapanDaisuke Fujisawa, Kimitoshi Nakamura, Hiroshi Mitsubuchi, et al.Ophthalmologica. Journal International D'Ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde|May 10, 2008
Relationship between diabetic macular edema and peripheral Th1/Th2 balanceKyoko Itoi, Kimitoshi Nakamura, Hidehiro Oku, et al.Case Reports in Pediatrics|February 10, 2023
Elective Cesarean Section during Preterm Prevents Pulmonary Hypoplasia Development in Potter SequenceYuya Kinoshita, Rieko Sakamoto, Yusuke Hattori, et al.Molecular Genetics and Metabolism Reports|December 6, 2023
Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in JapanYusuke Hattori, Takaaki Sawada, Jun Kido, et al.The Journal of Cell Biology|July 10, 2002
Calreticulin reveals a critical Ca(2+) checkpoint in cardiac myofibrillogenesisJian Li, Michel Pucéat, Carmen Perez-Terzic, et al.Journal of Human Genetics|March 10, 2017
Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patientsKiyoshiro Nagamatsu, Yoshiki Sekijima, Katsuya Nakamura, et al.The Science of the Total Environment|November 11, 2024
Association between prenatal mercury exposure and pediatric neurodevelopment: The Japan environment and children's studyShohei Kuraoka, Masako Oda, Takashi Ohba, et al.Plos One|February 23, 2019
Involvement of premacular mast cells in the pathogenesis of macular diseasesTakaki Sato, Seita Morishita, Taeko Horie, et al.Molecular Genetics and Metabolism|June 4, 2011
Time-dependent changes in the plasma amino acid concentration in diabetes mellitusTaiga Mochida, Takayuki Tanaka, Yasuko Shiraki, et al.Pageof 23