C Schaedel

Summary

Country: Sweden

Publications

  1. ncbi request reprint Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden
    C Schaedel
    Department of Paediatrics, University Hospitals, Lund, Sweden
    Clin Genet 56:318-22. 1999
  2. ncbi request reprint Predictors of deterioration of lung function in cystic fibrosis
    C Schaedel
    Department of Pediatrics, University Hospital, Lund, Sweden
    Pediatr Pulmonol 33:483-91. 2002
  3. ncbi request reprint Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel
    C Schaedel
    Department of Pediatrics, University Hospital in Lund, Lund University, Lund, Sweden
    J Pediatr 135:739-45. 1999
  4. ncbi request reprint A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR
    C Schaedel
    Department of Paediatrics, University Hospital, Lund, Sweden
    Hum Mol Genet 3:1001-2. 1994

Detail Information

Publications4

  1. ncbi request reprint Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden
    C Schaedel
    Department of Paediatrics, University Hospitals, Lund, Sweden
    Clin Genet 56:318-22. 1999
    ..6% to carry at least one deltaF508, 394delTT or 3659delC copy. Including the latter two in a screening programme would thus substantially reduce the risk of a false-negative outcome...
  2. ncbi request reprint Predictors of deterioration of lung function in cystic fibrosis
    C Schaedel
    Department of Pediatrics, University Hospital, Lund, Sweden
    Pediatr Pulmonol 33:483-91. 2002
    ..Patients with pancreatic sufficiency have no or only a slight decline of lung function with age once treatment is started, but an early diagnosis in this group is desirable...
  3. ncbi request reprint Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel
    C Schaedel
    Department of Pediatrics, University Hospital in Lund, Lund University, Lund, Sweden
    J Pediatr 135:739-45. 1999
    ..To study patients with autosomal recessive pseudohypoaldosteronism type 1 and to relate pulmonary disease to gene mutations of the epithelial sodium channel (ENaC)...
  4. ncbi request reprint A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR
    C Schaedel
    Department of Paediatrics, University Hospital, Lund, Sweden
    Hum Mol Genet 3:1001-2. 1994