What Links Neutropenia to Immature Cardiolipin in Patients with Barth Syndrome (tafazzin-deficiency)?
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DOI: 10.1182/blood-2019-123680
Abstract: Barth syndrome is an inherited X-linked disorder characterized by cardiomyopathy, skeletal muscle myopathy, and neutropenia. The syndrome arises because of inherited mutations in the gene TAZ, resulting in a loss of function of the protein… read more here.
Keywords: barth syndrome; cardiolipin; tafazzin; tafazzin deficiency ... See more keywords