Katsuhiko Tachibana

Clinical Assessment and Mutation Analysis of Kallmann Syndrome 1 (<i>KAL1</i>) and Fibroblast Growth Factor Receptor 1 (<i>FGFR1</i>, or<i>KAL2</i>) in Five Families and 18 Sporadic Patients

Naoko Sato, Noriyuki Katsumata, Masayo Kagami et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 220 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Standardized centile curves and reference intervals of serum insulin-like growth factor-I (IGF-I) levels in a normal Japanese population using the LMS method

Tsuyoshi Isojima, Akira Shimatsu, Susumu Yokoya et al. · Endocrine Journal · 2012 · 212 citations · Full text

Agriculture, Endocrinology, Nutrition +14

A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II

Hiroyuki Sonoda, Hideto Morimoto, Eiji Yoden et al. · Molecular Therapy · 2018 · 202 citations · Full text

Life Sciences, Neurology, Neuroscience +13

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

Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial

Torayuki Okuyama, Yoshikatsu Eto, Norio Sakai et al. · Molecular Therapy · 2018 · 152 citations · Full text

Medicine, Neurology, Pharmacology +6