Neuronal ceroid lipofuscinosis (NCL) types 1 and 2: Enzyme characteristics of PPT1 and TPP1, and their high risk and newborn screenings

Itagaki, Rina; Endo, Masahiro; Yanagisawa, Hiroko; Hossain, Mohammad Arif; Akiyama, Keiko; Miyajima, Takashi; Wu, Chen; Iwamoto, Takeo; Igarashi, Junko; Shintaku, Haruo; Eto, Yoshikatsu

期刊名称Molecular Genetics and Metabolism
作者Itagaki, Rina; Endo, Masahiro; Yanagisawa, Hiroko; Hossain, Mohammad Arif; Akiyama, Keiko; Miyajima, Takashi; Wu, Chen; Iwamoto, Takeo; Igarashi, Junko; Shintaku, Haruo; Eto, Yoshikatsu
卷第126卷
期第2期
印刷ISSN1096-7192
文件大小130.09KB
发表时间2019-02
DOI10.1016/j.ymgme.2018.12.189

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Neuronal ceroid lipofuscinosis (NCL) types 1 and 2: Enzyme characteristics of PPT1 and TPP1, and their high risk and newborn screenings