Article
Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome.
Journal of lipid research - 1 Sept 2015
Angelini Roberto, Lobasso Simona, Gorgoglione Ruggiero, Bowron Ann, Steward Colin G, Corcelli Angela
Abstract excerpt
Barth syndrome (BTHS), an X-linked disease associated with cardioskeletal myopathy, neutropenia, and organic aciduria, is characterized by abnormalities of card-iolipin (CL) species in mitochondria. Diagnosis of the disease is often compromised by lack of rapid and widely available diagnostic laboratory tests. The present study describes a new method for BTHS screening based on MALDI-TOF/MS analysis of leukocyte...
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