AB115. Prenatal diagnosis for severe cases of targets in expanded newborn screening

Por Yamaguchi, Seiji, Hasegawa, Yuki, Yamada, Kenji, Bo, Ryosuke, Kobayashi, Hironori, Taketani, Takeshi
Publicado no Ann Transl Med (2017)

A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis

Por Bo, Ryosuke, Hasegawa, Yuki, Yamada, Kenji, Kobayashi, Hironori, Taketani, Takeshi, Fukuda, Seiji, Yamaguchi, Seiji
Publicado no Mol Genet Metab Rep (2015)

A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth

Por Yamada, Kenji, Bo, Ryosuke, Kobayashi, Hironori, Hasegawa, Yuki, Ago, Mako, Fukuda, Seiji, Yamaguchi, Seiji, Taketani, Takeshi
Publicado no Mol Genet Metab Rep (2017)