Metabolic profiling reveals altered amino acid and fatty acid metabolism in children with Williams Syndrome

Metabolic profiling reveals altered amino acid and fatty acid metabolism in children with Williams Syndrome

Abstract Williams Syndrome (WS) is a rare neurodevelopmental disorder with a prevalence of 1 in 7500 to 1 in 20,000 individuals, caused by a microdeletion in chromosome 7q11.23. Despite its distinctive clinical features, the underlying metabolic alterations remain largely unexplored. This study empl...

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Bibliographic Details
Main Authors: Weijun Chen, Yang Yang, Yu Zhang, Changxuan Sun, Chai Ji, Jiyang Shen, Fangfang Li, Yingping Xiao, Yang Wen, Qian Liu, Chaochun Zou
Format: Article
Language:English
Published: Nature Portfolio 2024-12-01
Series:Scientific Reports
Subjects:
Williams Syndrome
Targeted metabolomics
Long-chain saturated fatty acids (LC-SFAs)
Docosahexaenoic acid (DHA)
Arachidonic acid (ARA)
Amino acids
Online Access:https://doi.org/10.1038/s41598-024-83146-4
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https://doi.org/10.1038/s41598-024-83146-4

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