Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings

Rett syndrome (RTT, OMIM 312750), a severe neurodevelopmental disorder characterized by regression with loss of spoken language and hand skills, development of characteristic hand stereotypies, and gait dysfunction, is primarily caused by de novo mutations in the X-linked gene Methyl-CpG-binding pro...

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Bibliographic Details
Main Authors: Jeffrey L. Neul, Steven A. Skinner, Fran Annese, Jane Lane, Peter Heydemann, Mary Jones, Walter E. Kaufmann, Daniel G. Glaze, Alan K. Percy
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Integrative Neuroscience
Subjects:
urea cycle
neurodevelopmental disorders
biomarker (development)
MeCP2
metabolomics (OMICS)
rett syndrome
Online Access:https://www.frontiersin.org/article/10.3389/fnint.2020.00007/full

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https://www.frontiersin.org/article/10.3389/fnint.2020.00007/full

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