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Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function

Barth Syndrome is the only known Mendelian disorder of cardiolipin remodeling, with characteristic clinical features of cardiomyopathy, skeletal myopathy, and neutropenia. While the primary biochemical defects of reduced mature cardiolipin and increased monolysocardiolipin are well-described, much o...

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Bibliografiske detaljer
Udgivet i:PLoS One
Main Authors: Sandlers, Yana, Mercier, Kelly, Pathmasiri, Wimal, Carlson, Jim, McRitchie, Susan, Sumner, Susan, Vernon, Hilary J.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4807847/
https://ncbi.nlm.nih.gov/pubmed/27015085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0151802
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