Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan

por Shigematsu, Yosuke, Yuasa, Miori, Ishige, Nobuyuki, Nakajima, Hideki, Tajima, Go
Publicado 2021

Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids

por Yuasa, Miori, Hata, Ikue, Sugihara, Keiichi, Isozaki, Yuko, Ohshima, Yusei, Hara, Keiichi, Tajima, Go, Shigematsu, Yosuke
Publicado 2019

Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Speci...

por Tajima, Go, Hara, Keiichi, Tsumura, Miyuki, Kagawa, Reiko, Sakura, Fumiaki, Sasai, Hideo, Yuasa, Miori, Shigematsu, Yosuke, Okada, Satoshi
Publicado 2023

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

por Tajima, Go, Kagawa, Reiko, Sakura, Fumiaki, Nakamura-Utsunomiya, Akari, Hara, Keiichi, Yuasa, Miori, Hasegawa, Yuki, Sasai, Hideo, Okada, Satoshi
Publicado 2021

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

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