These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. ABCA3 transporter deficiency. Hayes D; Lloyd EA; Fitch JA; Bush A Am J Respir Crit Care Med; 2012 Oct; 186(8):807. PubMed ID: 23071193 [No Abstract] [Full Text] [Related]
4. Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a case report. Shaaban W; Hammoud M; Abdulraheem A; Elsayed YY; Alkazemi N J Med Case Rep; 2021 Feb; 15(1):54. PubMed ID: 33526094 [TBL] [Abstract][Full Text] [Related]
5. Ultrastructural and molecular analysis in fatal neonatal interstitial pneumonia caused by a novel ABCA3 mutation. Bruder E; Hofmeister J; Aslanidis C; Hammer J; Bubendorf L; Schmitz G; Rufle A; Bührer C Mod Pathol; 2007 Oct; 20(10):1009-18. PubMed ID: 17660803 [TBL] [Abstract][Full Text] [Related]
7. [Pulmonary surfactant protein adenosine triphosphate-binding-cassette-A3 gene composite mutations in infant congenital interstitial lung disease: report of a case and review of literature]. Xie N; Chen DH; Lin YN; Wu SZ; Gu YY; Zeng QS; Zhai YY; Yang LY; Xu JX Zhonghua Er Ke Za Zhi; 2016 Oct; 54(10):761-766. PubMed ID: 27784479 [TBL] [Abstract][Full Text] [Related]
9. Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: a systematic evaluation of therapeutic options. Winter J; Essmann S; Kidszun A; Aslanidis C; Griese M; Poplawska K; Bartsch M; Schmitz G; Mildenberger E Klin Padiatr; 2014 Apr; 226(2):53-8. PubMed ID: 24633979 [TBL] [Abstract][Full Text] [Related]
10. Novel mutation in ABCA3 resulting in fatal congenital surfactant deficiency in two siblings. Moore GP; Lines MA; Geraghty MT; de Nanassy J; Kovesi T Am J Respir Crit Care Med; 2014 Mar; 189(6):750-2. PubMed ID: 24628317 [No Abstract] [Full Text] [Related]
11. The clinical importance of pulmonary gene and protein expression levels in an infant with lethal ABCA3 variants. Abe J; Ueki M; Honjou R; Takeda K; Seto Y; Nakamura Y; Furuse Y; Nakata K; Cho K Pediatr Pulmonol; 2023 Oct; 58(10):2956-2959. PubMed ID: 37477506 [No Abstract] [Full Text] [Related]
12. Novel ABCA3 mutations as a cause of respiratory distress in a term newborn. Gonçalves JP; Pinheiro L; Costa M; Silva A; Gonçalves A; Pereira A Gene; 2014 Jan; 534(2):417-20. PubMed ID: 24269975 [TBL] [Abstract][Full Text] [Related]
13. Novel insights into congenital surfactant dysfunction disorders by in silico analysis of ABCA3 proteins. Xiao GL; Gao Y; Hao H; Wei T; Hong C; Wang Y; Lin YY; Chi XF; Liu Y; Gao HY; Nie C World J Pediatr; 2023 Mar; 19(3):293-301. PubMed ID: 36404394 [No Abstract] [Full Text] [Related]
15. [Clinical analysis of heterozygous ABCA3 mutations in children]. Xu X; Liu E; Luo Z; Luo J; Fu Z Zhonghua Er Ke Za Zhi; 2014 Apr; 52(4):244-7. PubMed ID: 24915907 [TBL] [Abstract][Full Text] [Related]
16. Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Wambach JA; Casey AM; Fishman MP; Wegner DJ; Wert SE; Cole FS; Hamvas A; Nogee LM Am J Respir Crit Care Med; 2014 Jun; 189(12):1538-43. PubMed ID: 24871971 [TBL] [Abstract][Full Text] [Related]
17. Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. Matsumura Y; Ban N; Ueda K; Inagaki N J Biol Chem; 2006 Nov; 281(45):34503-14. PubMed ID: 16959783 [TBL] [Abstract][Full Text] [Related]
19. ABCA3 mutation-induced congenital pulmonary surfactant deficiency: A case report. Lei C; Wan C; Liu C Medicine (Baltimore); 2024 Mar; 103(13):e37622. PubMed ID: 38552044 [TBL] [Abstract][Full Text] [Related]