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Cystic Fibrosis: Case Report

Park SH, Lee HJ, Kim JH, Park CH

Cystic fibrosis is a autosomal recessive genetic disease. Among Caucasians, it is the most common cause of pulmonary insufficiency during the first three decades of life. The prevalence of cystic...
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Cystic fibrosis lung disease: Current perspectives

Jung JA

Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). These mutations alter the synthesis, processing, function, or...
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A Case of Mycobacterium abscessus Lung Disease in a Patient with Cystic Fibrosis

Jeong HJ, Kim JH, Ryu DH, Lee JE, Jun JE, Jeong SH, Koh WJ

Although cystic fibrosis (CF) is one of the most common hereditary disorders among Caucasians, it is very rare in the Korean population. Patients with CF are at particularly high risk...
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Radiologic Findings of Cystic Fibrosis in a Korean Child at Follow Up Study: Case Report

Jang IS, Park CK, Jeon SC, Choi YW, Park DW, Kim Y, Kim YS, Ahn YH

Cystic fibrosis is a hereditary disease involving recessive transmission. The fundamental abnormality consists of the production of abnormal secretion from a variety of exocrine glands such as salivary and sweat...
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Relation between the Cystic Fibrosis Transmembrane Conductance Regulators ( CFTR ) in Biliary Epithelium and Development of Intrahepatic Choledocholithiasis

Kim HJ, Kim MH, Lee SK, Seo DW, Min YI

  • KMID: 1598380
  • Korean J Gastroenterol.
  • 2001 Feb;37(2):112-119.
No abstract available.
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A case Report of a Classic Cystic fibrosis Pediatric Patient in Korea Carrying Very Rare CFTR Gene Mutations (D993Y and Q220X)

Kim MJ, Kang JW, Lee JH, Kim KW, Sohn MH, Lee MG, Kim MJ, Kim KE

  • KMID: 2315076
  • Pediatr Allergy Respir Dis.
  • 2011 Mar;21(1):61-66.
Cystic fibrosis is the most common autosomal recessive disease in Caucasian. Cystic fibrosis is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations that lead to dysfunction of chloride...
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Bronchiectasis

Kim C, Kim DG

The frequency of diagnosing bronchiectasis is increasing around the world. Cystic fibrosis is the most common inherited cause of bronchiectasis, but there is increasing recognition of significant numbers of patients...
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Not All Children with Cystic Fibrosis Have Abnormal Esophageal Neutralization during Chemical Clearance of Acid Reflux

Woodley FW, Moore-Clingenpeel M, Machado RS, Nemastil C, Jadcherla , Hayes D, Kopp BT, Kaul A, Di Lorenzo C, Mousa H

PURPOSE: Acid neutralization during chemical clearance is significantly prolonged in children with cystic fibrosis, compared to symptomatic children without cystic fibrosis. The absence of available reference values impeded identification of...
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Cystic fibrosis: a case presented with recurrent bronchiolitis in infancy in a Korean male infant

Moon HR, Ko TS, Ko YY, Choi JH, Kim YC

The aim of this case report is to draw the attention to the occurrence of cystic fibrosis (C.F.) in a Korean infant and thus increase the awareness for the...
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Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency

Choe YJ, Ko JS, Seo JK, Han JJ, Shim JO, Koh YY, Lee R, Ki CS, Kim JW, Kim JH

Cystic fibrosis (CF) is an autosomal recessive disease that is very rare in Asians: only a few cases have been reported in Korea. We treated a female infant with CF...
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Localization of Cystic Fibrosis Transmembrane Conductance Regulator in Nasal Polyp Epithelial Cell

Jang YJ, Cho JH, Lee JH, Lee CH

  • KMID: 2074353
  • Korean J Otolaryngol-Head Neck Surg.
  • 1999 Feb;42(2):193-196.
BACKGROUND AND OBJECTIVES: Cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel protein that plays an important role in electrolyte and water transport, whose kinetics and localization are altered...
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A case of cystic fibrosis presented with meconium ileus in a female neonate

Hwang IO, Lee ES

Meconium ileus (MI) is the earliest clinical manifestation of cystic fibrosis (CF) in infants. It arises from the intraluminal accumulation of highly viscid, protein-rich meconium, typically present in the terminal...
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Cystic fibrosis of pancreas and nephrotic syndrome: a rare association

Kelekci S, Karabel M, Ece A, Sen V, Gunes A, Yolbas I, Sahin C

Cystic fibrosis (CF) is a genetic disease with autosomal recessive inheritance and is common in Caucasian people. The prevalence of this disease is between 1/2,000 and 1/3,500 live births, and...
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Expression of Cystic Fibrosis Transmembrane Regulator in Nasal Polyps

Kim ST, Hwang YJ, Jung HH, Hwang SJ

  • KMID: 1977718
  • Korean J Otolaryngol-Head Neck Surg.
  • 1999 Nov;42(11):1385-1391.
BACKGROUND AND OBJECTIVES: Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Nasal polyps are also prominent features of...
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Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis

Ko JM, Kim GH, Kim KM, Hong SJ, Yoo HW

Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in Caucasians, but rare in Asians. The mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene are responsible for...
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Report of a Korean Patient with Cystic Fibrosis, Carrying Q98R and Q220X Mutations in the CFTR Gene

Koh WJ, Ki CS, Kim JW, Kim JH, Lim SY

Although cystic fibrosis (CF) is one of the most frequently seen autosomal-recessive disorders in Caucasians, it is extremely rare in the Korean population. Recently, a 15-yr-old Korean boy was admitted...
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Genetic Abnormality and Localization of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) in Patients with Nasal Polyps

Jang YJ, Oh CH, Lee CH

  • KMID: 2297716
  • J Rhinol.
  • 2000 May;7(1):22-27.
BACKGROUND AND OBJECTIVES: Cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel protein, its kinetics and localization are altered in cystic fibrosis. The purpose of this study was to...
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The L441P Mutation of Cystic Fibrosis Transmembrane conductance Regulator and its Molecular Pathogenic Mechanisms in a Korean Patient with Cystic Fibrosis

Gee HY, Kim CK, Kim SW, Lee JH, Kim JH, Kim KH, Lee MG

Cystic fibrosis (CF) is an autosomal recessive disorder usually found in populations of white Caucasian descent. CF is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene....
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The First Successful Lung Transplantation in a Korean Child with Cystic Fibrosis

Noh SR, Lee E, Yoon J, Jung S, Yang SI, Yu J, Hong SJ

Cystic fibrosis (CF) is an autosomal recessive inherited multisystem disorder caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Respiratory failure remains the most...
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Standardized Sweat Chloride Analysis for the Diagnosis of Cystic Fibrosis in Korea

Kim SJ, Lee M, Cha SI, Park HY, Ahn KM, Ki CS, Kim JH

BACKGROUND: Cystic fibrosis is a chronic progressive autosomal recessive disorder caused by the CFTR gene mutations. It is quite common in Caucasians, but very rare in Asians. Sweat chloride...
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