N Pakkasjärvi

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. ncbi Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level
    Heli Honkala
    National Institute for Health and Welfare and FIMM, Institute for Molecular Medicine Finland, Helsinki, Finland
    Pathogenetics 2:2. 2009
  2. ncbi Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study
    Niklas Pakkasjärvi
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, Helsinki, Finland
    Am J Med Genet A 140:1834-9. 2006
  3. ncbi Respiratory distress secondary to nasopharyngeal glial heterotopia
    N Pakkasjärvi
    Department of Pediatric Surgery, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    Eur J Pediatr Surg 18:117-8. 2008

Collaborators

Detail Information

Publications3

  1. ncbi Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level
    Heli Honkala
    National Institute for Health and Welfare and FIMM, Institute for Molecular Medicine Finland, Helsinki, Finland
    Pathogenetics 2:2. 2009
    ..HLS is caused by a substitution of aspartic acid by glycine in the HYLS1 protein, whose function was previously unknown...
  2. ncbi Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study
    Niklas Pakkasjärvi
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, Helsinki, Finland
    Am J Med Genet A 140:1834-9. 2006
    ..LCCS is noted as a unique Finnish disorder with a prevalence of 1 in 25,250 (0.40/10,000) births and is a major cause of lethal arthrogryposis in Finland...
  3. ncbi Respiratory distress secondary to nasopharyngeal glial heterotopia
    N Pakkasjärvi
    Department of Pediatric Surgery, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    Eur J Pediatr Surg 18:117-8. 2008
    ..A high degree of suspicion, early diagnosis and surgical management are essential to cure this rare and potentially life-threatening disorder...