Articles with "abca3 deficiency" as a keyword



Severe adenovirus type F enteritis in a young child with acute myeloid leukemia

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Published in 2021 at "Pediatrics International"

DOI: 10.1111/ped.14461

Abstract: for the treatment of childhood interstitial lung disease. However, to our knowledge, there is only one reported case of ABCA3 deficiency that significantly improved after AZM treatment. It is suggested that AZM is effective in… read more here.

Keywords: type enteritis; treatment; azm treatment; abca3 deficiency ... See more keywords
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First Steps toward Personalized Therapies for ABCA3 Deficiency

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Published in 2022 at "American Journal of Respiratory Cell and Molecular Biology"

DOI: 10.1165/rcmb.2021-0405ed

Abstract: The ABCA3 (ATP-binding cassette transporter A3) protein transports phospholipids from the cytoplasm into lamellar bodies in alveolar type II cells (AEC2s) and is critical for pulmonary surfactant synthesis and function. Biallelic pathogenic ABCA3 variants cause… read more here.

Keywords: first steps; steps toward; therapies abca3; toward personalized ... See more keywords