کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8342997 | 1541546 | 2018 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening](/preview/png/8342997.png)
چکیده انگلیسی
A pilot study of newborn screening of NCL 1 and 2 has been established by more than 1000 newborn DBS assays. Using this assay system, we will be able to perform newborn screening of NCL 1 and 2 by DBS.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 124, Issue 1, May 2018, Pages 64-70
Journal: Molecular Genetics and Metabolism - Volume 124, Issue 1, May 2018, Pages 64-70
نویسندگان
Rina Itagaki, Masahiro Endo, Hiroko Yanagisawa, Mohammad Arif Hossain, Keiko Akiyama, Keiko Yaginuma, Takashi Miyajima, Chen Wu, Takeo Iwamoto, Junko Igarashi, Yu Kobayashi, Jun Tohyama, Kazuhiro Iwama, Naomichi Matsumoto, Haruo Shintaku, Yoshikatsu Eto,