什么是囊性纤维化？ - Suppr

Suppr

超能文献

What is cystic fibrosis?

作者信息

Knowles Michael R, Durie Peter R

出版信息

N Engl J Med. 2002 Aug 8;347(6):439-42. doi: 10.1056/NEJMe020070.

DOI:10.1056/NEJMe020070

PMID:12167688

Abstract

摘要

相似文献

What is cystic fibrosis?

N Engl J Med. 2002 Aug 8;347(6):439-42. doi: 10.1056/NEJMe020070.

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

N Engl J Med. 2002 Dec 5;347(23):1892-3; author reply 1892-3. doi: 10.1056/NEJM200212053472318.

[Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes].

Ugeskr Laeger. 2003 Feb 24;165(9):912-6.

[First diagnosis of cystic fibrosis in Afghanistan and description of a new mutation].

Arch Pediatr. 2010 Feb;17(2):180-1. doi: 10.1016/j.arcped.2009.11.010. Epub 2009 Dec 16.

CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel.

Methods Mol Med. 2002;70:3-19. doi: 10.1385/1-59259-187-6:03.

Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype.

J Pediatr. 2011 Aug;159(2):343-6.e1. doi: 10.1016/j.jpeds.2011.04.022. Epub 2011 Jun 12.

Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis.

Clin Genet. 2005 Jun;67(6):529-31. doi: 10.1111/j.1399-0004.2005.00437.x.

Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140.

Hum Mutat. 1997;9(4):368-9. doi: 10.1002/(SICI)1098-1004(1997)9:4<368::AID-HUMU13>3.0.CO;2-0.

Newborn screening for cystic fibrosis.

S D Med. 2006 Oct;59(10):429-31.

Molecular diagnosis of cystic fibrosis.

Clin Lab Med. 1995 Dec;15(4):877-98.

引用本文的文献

Evaluation of Cystic Fibrosis Newborn Screening and Follow-Up Process in Georgia (2022-2023).

Int J Neonatal Screen. 2025 Jun 4;11(2):43. doi: 10.3390/ijns11020043.

A guide to virulence capabilities, as we currently understand them.

Front Cell Infect Microbiol. 2024 Jan 11;13:1322853. doi: 10.3389/fcimb.2023.1322853. eCollection 2023.

Two rare variants that affect the same amino acid in CFTR have distinct responses to ivacaftor.

J Physiol. 2024 Jan;602(2):333-354. doi: 10.1113/JP285727. Epub 2024 Jan 7.

Longitudinal microbial and molecular dynamics in the cystic fibrosis lung after Elexacaftor-Tezacaftor-Ivacaftor therapy.

Respir Res. 2023 Dec 16;24(1):317. doi: 10.1186/s12931-023-02630-z.

Epithelial Transport in Disease: An Overview of Pathophysiology and Treatment.

Cells. 2023 Oct 15;12(20):2455. doi: 10.3390/cells12202455.

Longitudinal Microbial and Molecular Dynamics in the Cystic Fibrosis Lung after Elexacaftor-Tezacaftor-Ivacaftor therapy.

Res Sq. 2023 Sep 25:rs.3.rs-3356170. doi: 10.21203/rs.3.rs-3356170/v1.

New Insights and Potential Therapeutic Interventions in Metabolic Diseases.

Int J Mol Sci. 2023 Jun 26;24(13):10672. doi: 10.3390/ijms241310672.

Effect of Different Molecular Weights of Polyacrylic Acid on Rat Lung Following Intratracheal Instillation.

Int J Mol Sci. 2022 Sep 7;23(18):10345. doi: 10.3390/ijms231810345.

Ultrasound-guided placement of long peripheral cannula in children with cystic fibrosis.

Pediatr Pulmonol. 2022 Sep;57(9):2060-2066. doi: 10.1002/ppul.25978. Epub 2022 May 27.

Parasite Survival and Disease Persistence in Cystic Fibrosis, Schistosomiasis and Pathogenic Bacterial Diseases: A Role for Universal Stress Proteins?

Int J Mol Sci. 2021 Oct 8;22(19):10878. doi: 10.3390/ijms221910878.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验