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Items: 9

1.

Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations.

Gower WA, Wert SE, Ginsberg JS, Golan A, Whitsett JA, Nogee LM.

J Pediatr. 2010 Jul;157(1):62-8. doi: 10.1016/j.jpeds.2010.01.010. Epub 2010 Mar 20.

PMID:
20304423
2.

ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease.

Bullard JE, Wert SE, Nogee LM.

Semin Perinatol. 2006 Dec;30(6):327-34. Review.

PMID:
17142158
3.

The biology of the ABCA3 lipid transporter in lung health and disease.

Beers MF, Mulugeta S.

Cell Tissue Res. 2017 Mar;367(3):481-493. doi: 10.1007/s00441-016-2554-z. Epub 2016 Dec 26. Review.

PMID:
28025703
4.

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. doi: 10.1055/s-0033-1363687. Epub 2014 Mar 14. Review.

PMID:
24633979
5.

ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system.

Peca D, Cutrera R, Masotti A, Boldrini R, Danhaive O.

Biochem Soc Trans. 2015 Oct;43(5):913-9. doi: 10.1042/BST20150100. Review.

PMID:
26517903
6.

Variable clinical outcome of ABCA3 deficiency in two siblings.

Thavagnanam S, Cutz E, Manson D, Nogee LM, Dell SD.

Pediatr Pulmonol. 2013 Oct;48(10):1035-8. doi: 10.1002/ppul.22698. Epub 2013 Jul 2. Review.

PMID:
23818309
7.

Genetic disorders of surfactant proteins.

Hamvas A, Cole FS, Nogee LM.

Neonatology. 2007;91(4):311-7. Epub 2007 Jun 7. Review.

PMID:
17575475
8.

Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3.

Paolini A, Baldassarre A, Del Gaudio I, Masotti A.

Int J Mol Sci. 2015 Aug 19;16(8):19631-44. doi: 10.3390/ijms160819631. Review.

9.

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