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-Reference-Cited by-同舟云学术

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

Published:2023-09 Issue:1-2 Volume:140 Page:107703
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

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.

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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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1. Differences in bile acid profiles between cholestatic diseases – Development of a high throughput assay for dried bloodspots;Clinica Chimica Acta;2024-08

2. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023);International Journal of Neonatal Screening;2024-05-23

3. Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis;Frontiers in Pediatrics;2024-04-05

4. Maternal sterol 27-hydroxylase is crucial for securing fetal development;2023-11-12