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Article

ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.

International journal of molecular sciences - 3 May 2023

Yang Xiaohua, Forstner Maria, Rapp Christina K, Rothenaigner Ina, Li Yang, Hadian Kamyar, Griese Matthias

Abstract excerpt

Biallelic variants in ABCA3, the gene encoding the lipid transporter ATP-binding cassette subfamily A member 3 (ABCA3) that is predominantly expressed in alveolar type II cells, may cause interstitial lung diseases in children (chILD) and adults. Currently, there is no proven therapy, but, frequently, hydroxychloroquine (HCQ) is used empirically. We hypothesized that the in vitro responsiveness to HCQ might...

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Identifiers

PMID: 37175887
DOI: 10.3390/ijms24098179
PMCID: PMC10179277

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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