Yoshihiko Furusawa

Japan’s initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey

Takeya Adachi, Kazuo Kawamura, Yoshihiko Furusawa et al. · European Journal of Human Genetics · 2017 · 100 citations · Full text

Life Sciences, Biomedical Informatics, Health Informatics +14

Consensus for the measurement of the camptocormia angle in the standing patient

Nils G. Margraf, Robin Wolke, Oliver Granert et al. · Parkinsonism & Related Disorders · 2018 · 69 citations

Medicine, Endocrinology, Physiology +2

Long-term effect of repeated lidocaine injections into the external oblique for upper camptocormia in Parkinson's disease

Yoshihiko Furusawa, Yohei Mukai, Tomoya Kawazoe et al. · Parkinsonism & Related Disorders · 2012 · 43 citations

Medicine, Neurology, Neuroscience +12

Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Yūji Takahashi, Hidetoshi Date, Hideki Oi et al. · Journal of Human Genetics · 2022 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Effects of enzyme replacement therapy on five patients with advanced late‐onset glycogen storage disease type II: a 2‐year follow‐up study

Yoshihiko Furusawa, Madoka Mori‐Yoshimura, Toshiyuki Yamamoto et al. · Journal of Inherited Metabolic Disease · 2011 · 36 citations

Life Sciences, Biochemistry, Internal Medicine +10