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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease barth syndrome
Symptom C0027947|neutropenia
Sentences 3
PubMedID- 23041719 Summary: neutropenia in barth syndrome is most likely due to reactive oxygen species induced exposure of phosphatidylserine, leading to increased clearance of neutrophils by tissue macrophages.
PubMedID- 22023389 The cellular and molecular mechanisms for neutropenia in barth syndrome.
PubMedID- 23190323 Successful mechanical circulatory support for 251 days in a child with intermittent severe neutropenia due to barth syndrome.

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