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4 resultsUpdated October 20, 2026

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1

Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report

Journal of Medical Case Reports 10(1) (2016)

Harry Pachajoa; Felipe Ruiz-Botero; Luis Enrique Meza-Escobar; Vania Alexandra Villota-Delgado; Adriana Ballesteros; Ivan Padilla; Diana Duarte

2

Diagnostic Challenges in Neonatal Respiratory Distress—Congenital Surfactant Metabolism Dysfunction Caused by ABCA3 Mutation

Diagnostics 12(5) (2022)

Justyna Rogulska; Katarzyna Wróblewska-Seniuk; Robert Śmigiel; Jarosław Szydłowski; Tomasz Szczapa

3

A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death

Congenital Anomalies 61(6) (2021)

Montaha Al‐Iede; Mariam Khanfar; Luma Srour; Raja Rabah; Mousa Al‐Abbadi; Bilal Azab; Eman F. Badran

4

The impact of ATP-binding cassette transporters on metabolic diseases

Nutrition & Metabolism 17(1) (2020)

Zixiang Ye; Yifei Lu; Tao Wu