Yuichi Mushimoto

Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1

Yuichi Mushimoto, Seiji Fukuda, Yuki Hasegawa et al. · Molecular Genetics and Metabolism · 2010 · 107 citations

Molecular Investigation, Inherited Metabolic Disease, Hematology +3

Clinical and genetic aspects of hypophosphatasia in Japanese patients

Takeshi Taketani, Kazumichi Onigata, Hironori Kobayashi et al. · Archives of Disease in Childhood · 2013 · 89 citations

Novel compound heterozygous mutations in the SBP2 gene: characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation

Takashi Hamajima, Yuichi Mushimoto, Hironori Kobayashi et al. · European Journal of Endocrinology · 2012 · 69 citations

Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: Evaluation by in vitro probe acylcarnitine assay

Seiji Yamaguchi, Hong Li, Jamiyan Purevsuren et al. · Molecular Genetics and Metabolism · 2012 · 53 citations

Metabolic Syndrome, Oxysterol, Health Sciences +10

Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision)

Keisuke Nagasaki, Kanshi Minamitani, Akie Nakamura et al. · Clinical Pediatric Endocrinology · 2022 · 33 citations · Full text