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 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical practice guidelines for congenital hyperinsulinism

Tohru Yorifuji, Reiko Horikawa, Tomonobu Hasegawa et al. · Clinical Pediatric Endocrinology · 2017 · 79 citations · Full text

Medicine, Endocrinology, Pediatrics +14

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 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature

Maki Fukami, Yasuhiro Naiki, Koji Muroya et al. · Journal of Human Genetics · 2015 · 45 citations

Life Sciences, Genetics, Molecular Genetics +16

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

Medicine, Pediatrics, Surgery +17