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Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

机译:囊性纤维化的诊断:囊性纤维化基础的共识指导

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摘要

Objective Cystic fibrosis (CF), caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, continues to present diagnostic challenges. Newborn screening and an evolving understanding of CF genetics have prompted a reconsideration of the diagnosis criteria.
机译:目的囊性纤维化(CF),由CF跨膜电导调节剂(CFTR)基因突变引起,仍在继续呈现诊断挑战。 新生儿筛查和对CF遗传学的不断发展促使对诊断标准进行了重新考虑。

著录项

  • 来源
    《The Journal of pediatrics》 |2017年第2017期|共13页
  • 作者单位

    Univ Wisconsin Sch Med &

    Publ Hlth Dept Pediat Madison WI USA;

    Cyst Fibrosis Fdn Bethesda MD USA;

    Indiana Univ Sch Med Riley Hosp Children Sect Pediat Pulmonol Allergy &

    Sleep Med Indianapolis;

    Cyst Fibrosis Fdn Bethesda MD USA;

    Univ Colorado Sch Med Colorado Sch Publ Hlth Sect Pediat Pulmonol Aurora CO USA;

    Charite CFTR Biomarker Ctr CF Ctr Pediat Pulmonol &

    Immunol D-13353 Berlin Germany;

    Indiana Univ Sch Med Riley Hosp Children Sect Pediat Pulmonol Allergy &

    Sleep Med Indianapolis;

    Northwestern Univ Feinberg Sch Med Ann &

    Robert H Lurie Childrens Hosp Chicago Dept Pediat;

    Univ Wisconsin Sch Med &

    Publ Hlth Dept Pediat Madison WI USA;

    Univ Washington Sch Med Seattle Childrens Res Inst Seattle WA USA;

    Hop Necker Enfants Malad Ctr Ressources &

    Comptences Mucoviscidose Inst Necker Enfants Malades;

    Univ Liverpool Alder Hey Childrens Hosp Inst Pk Dept Womens &

    Childrens Hlth Liverpool L69 3BX;

    Cyst Fibrosis Fdn Bethesda MD USA;

    Johns Hopkins Univ Dept Med Div Pulm &

    Crit Care Med Baltimore MD USA;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 儿科学;
  • 关键词

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