Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome

Barth syndrome (BTHS), an X-linked disease associated with cardioskeletal myopathy, neutropenia, and organic aciduria, is characterized by abnormalities of card­iolipin (CL) species in mitochondria. Diagnosis of the disease is often compromised by lack of rapid and widely available diagnostic labora...

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Publicat a:J Lipid Res
Autors principals: Angelini, Roberto, Lobasso, Simona, Gorgoglione, Ruggiero, Bowron, Ann, Steward, Colin G., Corcelli, Angela
Format: Artigo
Idioma:Inglês
Publicat: The American Society for Biochemistry and Molecular Biology 2015
Matèries:
Patient-Oriented and Epidemiological Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4548783/
https://ncbi.nlm.nih.gov/pubmed/26144817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.D059824
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