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Molecular Genetics and Metabolism Reports|February 22, 2021
Physical, cognitive, and social status of patients with urea cycle disorders in JapanJun Kido, Shirou Matsumoto, Tetsuya Ito, et al.
Journal of Pharmacological Sciences|December 20, 2021
Effects of flurbiprofen on the functional regulation of serotonin transporter and its misfolded mutantHaruki Hirakawa, Kei Taguchi, Seiya Murakawa, et al.
Brain & Development|April 20, 2023
Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe diseaseAkihiko Mitsutake, Takashi Matsukawa, Atsushi Iwata, et al.
American Journal of Medical Genetics. Part A|January 21, 2016
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/betaTakumi Shibazaki, Koichi Hirabayashi, Shoji Saito, et al.
Molecular Genetics and Metabolism|January 14, 2011
Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screeningTakuma Yamamoto, Hidekazu Tanaka, Hironori Kobayashi, et al.
Molecular Genetics and Metabolism|September 5, 2013
The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smearAyumi Takamura, Norio Sakai, Michiko Shinpoo, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|February 13, 2019
Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case reportShinji Takeyari, Satoshi Takakuwa, Kei Miyata, et al.
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