Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites

Author:

Muto Yamato,Suzuki Mitsuyoshi,Takei Hajime,Saito Nobutomo,Mori Jun,Sugimoto Satoru,Imagawa Kazuo,Nambu Ryusuke,Oguri Saori,Itonaga Tomoyo,Ihara Kenji,Hayashi Hisamitsu,Murayama Kei,Kakiyama Genta,Nittono Hiroshi,Shimizu Toshiaki

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference47 articles.

1. Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease;Mazzacuva;FEBS Lett.,2016

2. Inborn errors of bile acid metabolism;Heubi;Clin. Liver Dis.,2018

3. Up to date on cholesterol 7 alpha-hydroxylase (CYP7A1) in bile acid synthesis;Chiang;Liver Res.,2020

4. The acidic pathway of bile acid synthesis: not just an alternative pathway(☆);Pandak;Liver Res.,2019

5. Chapter 33, disorders of bile acid synthesis and metabolism in children;Suchy,2021

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