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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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Sandlers, Yana, Mercier, Kelly, Pathmasiri, Wimal, Carlson, Jim, McRitchie, Susan, Sumner, Susan, Vernon, Hilary J.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Acesso em linha: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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