Shun Soneda

Cytochrome P450 Oxidoreductase Gene Mutations and Antley-Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients

Maki Fukami, Reiko Horikawa, Toshiro Nagai et al. · The Journal of Clinical Endocrinology & Metabolism · 2005 · 158 citations · Full text

Clinical practice guidelines for congenital hyperinsulinism

Tohru Yorifuji, Reiko Horikawa, Tomonobu Hasegawa et al. · Clinical Pediatric Endocrinology · 2017 · 75 citations · Full text

General Academic Pediatrics, Neonatology, Inherited Metabolic Disease +13

SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

Yuan‐Zong Song, Zhan‐Hui Zhang, Wei‐Xia Lin et al. · PLoS ONE · 2013 · 62 citations · Full text

Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor

Takanobu Shigeta, Mureo Kasahara, Takuya Kimura et al. · Pediatric Transplantation · 2009 · 40 citations

Aromatase Excess Syndrome: Identification of Cryptic Duplications and Deletions Leading to Gain of Function of<i>CYP19A1</i>and Assessment of Phenotypic Determinants

Maki Fukami, Makio Shozu, Shun Soneda et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 36 citations