Evaluation and management of inherited disorders of surfactant metabolism.

Abstract excerpt

OBJECTIVE: To review the pathophysiology, evaluation, management, and outcomes of children with inherited disorders of surfactant metabolism due to mutations in the genes encoding surfactant proteins-B or -C (SFTPB, SFTPC), ATP binding cassette member A3 (ABCA3), and thyroid transcription factor (NKX2.1). DATA SOURCES: Review of the literature, previous work from the author's and collaborators' laboratories, St....

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