Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry

द्वारा Shigetomi, Hiroko, Tanaka, Toju, Nagao, Masayoshi, Tsutsumi, Hiroyuki
में प्रकाशित Int J Neonatal Screen (2018)

Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia

द्वारा Norioka, Ryohei, Tobisawa, Shinsuke, Nishigori, Ryusei, Kuhara, Tomiko, Yazaki, Masahide, Nagao, Masayoshi, Ohura, Toshihiro, Takai, Yasuyuki, Funai, Asuka, Miyamoto, Kazuhito, Kawata, Akihiro, Takahashi, Kazushi
में प्रकाशित Intractable Rare Dis Res (2021)