Research theme for competitive and other funds (3)：
2015 - 2019 Diagnosis of disorders of sex development (DSD) by steroid profiling using dried blood spots and electrospray ionization/tandem mass spectrometry (MS/MS)
2010 - 2011 Development of evaluation method of drug safety for children using cultured cells and tandem mass spectrometry
2010 - 2011 Enzymatic evaluation of fatty acid oxidation by an in vitro probe acylcarnitine profiling assay using peripheral lymphocytes and electrospray ionization/tandem mass spectrometry(MS/MS)
Papers (18)：
Mari Kurokawa, Michiko Torio, Kazuhiro Ohkubo, Vlad Tocan, Noriko Ohyama, Naoko Toda, Kanako Ishii, Kei Nishiyama, Yuichi Mushimoto, Ryuichi Sakamoto, et al. The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S. Mol Genet Genomic Med. 2020. 8. 4. e1175
Yamada K, Matsubara K, Matsubara Y, Watanabe A, Kawakami S, Ochi F, Kuwabara K, Mushimoto Y, Kobayashi H, Hasegawa Y, et al. Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby. JIMD reports. 2019. 49. 1. 17-20
S. Yamaguchi, J. Purevsuren, K. Yamada, T. Takahashi, Y. Mushimoto, H. Kobayashi, Y. Hasegawa, M. Takayanagi, S. Fukuda. INTRACELLULAR ACYLCARNITINE PROFILING USING IN VITRO PROBE ASSAY AT VARIOUS C0 CONCENTRATIONS SELECTIVELY IDENTIFIES CPT-1 DEFICIENCY AND PRIMARY CARNITINE DEFICIENCY. JOURNAL OF INHERITED METABOLIC DISEASE. 2012. 35. S69-S69
Takashi Hamajima, Yuichi Mushimoto, Hironori Kobayashi, Yoshiro Saito, Kaxumichi Onigata. Novel compound heterozygous mutations in the SBP2 gene: characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation (vol 166, pg 757, 2012). EUROPEAN JOURNAL OF ENDOCRINOLOGY. 2012. 166. 5. 957-957
A case of double diabetes in a child presenting with conditions of both diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome.
(45th Annual Conference of the International Society for Pediatric and Adolescent Diabetes 2019)
Investigation of GNAS1 gene mutations and expression patterns of fibroblast growth factor 23 protein in McCune-Albright syndrome.
(The Endocrine Society’s 101st Annual Meeting & EXPO 2019)
