Hirotake Sawada

Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients

Maki Fukami, Gen Nishimura, Keiko Homma et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 114 citations

Life Sciences, Genetics, Molecular Genetics +17

Newborn screening for Fabry disease in the western region of Japan

Takaaki Sawada, Jun Kido, Shinichiro Yoshida et al. · Molecular Genetics and Metabolism Reports · 2020 · 71 citations · Full text

Medicine, Genetics, Pediatrics +17

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

Yoshiro Suzuki, David Chitayat, Hirotake Sawada et al. · The American Journal of Human Genetics · 2018 · 70 citations · Full text

Medicine, Endocrinology, Obstetrics +16

Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding

Hayato Tada, Masa‐aki Kawashiri, Mutsuko Takata et al. · JIMD Reports · 2015 · 48 citations

Life Sciences, Genetics, Molecular Genetics +17

A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome

Midori Motokawa, Satoshi Watanabe, Akiko Nakatomi et al. · Journal of Human Genetics · 2018 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7