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Dive into the research topics where Yuichi Mushimoto is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Perinatal-Onset Neuronopathic Gaucher Disease Is Refractory to High-Dose Ambroxol: A Case Report and Literature Review
Fujikawa, R., Egami, N., Mikubo, R., Kajiwara, K., Tocan, V., Igata, Y., Miyauchi, Y., Yasuoka, K., Sakai, Y., Mushimoto, Y., Ochiai, M., Inoue, H. & Ohga, S., 2025, (Accepted/In press) In: Neonatology. p. 1-6 6 p.Research output: Contribution to journal › Article › peer-review
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A Case of Cardiogenic Shock due to Propionic Acidemia-Associated Cardiomyopathy Successfully Treated with a Combination of Mechanical Circulatory Support and Medical Therapy
Ishikawa, Y., Fujino, T., Hashimoto, T., Shinohara, K., Matsushima, S., Fuke, Y., Ushijima, T., Sonoda, H., Nakashima, Y., Mushimoto, Y., Ishii, K., Ide, T., Tsutsui, H., Kinugawa, S., Shiose, A. & Abe, K., 2024, In: International heart journal. 65, 6, p. 1172-1176 5 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Genotype–Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects
Tanase-Nakao, K., Iwahashi-Odano, M., Sugisawa, C., Abe, K., Muroya, K., Yamamoto, Y., Kawada, Y., Mushimoto, Y., Okubo, K., Kinjo, S., Shimura, K., Aoyama, K., Mizuno, H., Hotsubo, T., Takahashi, C., Isojima, T., Kina, Y., Takakuwa, S., Hamada, J. & Sawaki, M. & 8 others, , Sept 1 2024, In: Journal of Clinical Endocrinology and Metabolism. 109, 9, p. 2358-2365 8 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Link opens in a new tab Citations (Scopus) -
High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome
Tocan, V., Nakamura-Utsunomiya, A., Sonoda, Y., Matsuoka, W., Mizuguchi, S., Muto, Y., Hijioka, T., Nogami, M., Sasaoka, D., Nagamatsu, F., Oba, U., Kawakubo, N., Hamada, H., Mushimoto, Y., Chong, P. F., Kaku, N., Koga, Y., Sakai, Y., Oda, Y. & Tajiri, T. & 1 others, , Mar 2024, In: International journal of molecular sciences. 25, 5, 2820.Research output: Contribution to journal › Article › peer-review
Open Access3 Link opens in a new tab Citations (Scopus) -
Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review
Higashi, K., Sonoda, Y., Kaku, N., Fujii, F., Yamashita, F., Lee, S., Tocan, V., Ebihara, G., Matsuoka, W., Tetsuhara, K., Sonoda, M., Chong, P. F., Mushimoto, Y., Kojima-Ishii, K., Ishimura, M., Koga, Y., Fukuta, A., Tsuchihashi, N. A., Kikuchi, Y. & Karashima, T. & 9 others, , Apr 2024, In: Molecular genetics & genomic medicine. 12, 4, p. e2427Research output: Contribution to journal › Review article › peer-review
5 Link opens in a new tab Citations (Scopus)