Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common <i>PCCB</i> Variant

by Go Tajima, Reiko Kagawa, Fumiaki Sakura, Akari Nakamura-Utsunomiya, Keiichi Hara, Miori Yuasa, Yuki Hasegawa, Hideo Sasai, Satoshi Okada
Published 2021-06-01

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months

by Akari Nakamura-Utsunomiya, Toshio Nakamae, Reiko Kagawa, Shuhei Karakawa, Sonoko Sakata, Fumiaki Sakura, Chihiro Tani, Yoshiko Matsubara, Takashi Ishino, Go Tajima, Satoshi Okada
Published 2020-02-01

Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remet...

by Reiko Kagawa, Go Tajima, Takako Maeda, Fumiaki Sakura, Akari Nakamura-Utsunomiya, Keiichi Hara, Yutaka Nishimura, Miori Yuasa, Yosuke Shigematsu, Hiromi Tanaka, Saki Fujihara, Chiyoko Yoshii, Satoshi Okada
Published 2021-07-01