R Kauppinen

Summary

Affiliation: Helsinki University Central Hospital
Country: Finland

Publications

  1. ncbi request reprint Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families
    Raili Kauppinen
    Department of Medicine, Division of Endocrinology, University Hospital of Helsinki, 00029 HUS Helsinki, Finland
    Clin Chem 48:1891-900. 2002
  2. ncbi request reprint Molecular diagnostics of acute intermittent porphyria
    Raili Kauppinen
    Department of Medicine, University Hospital of Helsinki, Biomedicum Helsinki, BOX 700 00029 HUS, Helsinki, Finland
    Expert Rev Mol Diagn 4:243-9. 2004
  3. ncbi request reprint Porphyrias
    Raili Kauppinen
    Research Program in Molecular Medicine, Biomedicum Helsinki, University of Helsinki, Finland
    Lancet 365:241-52. 2005
  4. ncbi request reprint Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect
    R Kauppinen
    Department of Medicine, Division of Diabetology, Dermatology and Clinical Chemistry of the University of Helsinki, Finland
    J Invest Dermatol 116:610-3. 2001
  5. ncbi request reprint Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria
    S Mustajoki
    Department of Medicine, Division of Endocrinology, Helsinki University Central Hospital, FIN 00290 Helsinki, Finland
    Genome Res 7:1054-60. 1997
  6. pmc Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients
    M von und zu Fraunberg
    Department of Medicine, University Central Hospital of Helsinki, Finland
    Mol Med 7:320-8. 2001
  7. ncbi request reprint Insertion of Alu element responsible for acute intermittent porphyria
    S Mustajoki
    Department of Medicine, Helsinki University Central Hospital, Finland
    Hum Mutat 13:431-8. 1999
  8. pmc Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells
    S Mustajoki
    Department of Medicine, Helsinki University Central Hospital, Finland
    Mol Med 6:670-9. 2000
  9. ncbi request reprint Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria
    S Mustajoki
    Department of Medicine, Helsinki University Central Hospital, Finland
    Hum Genet 102:541-8. 1998
  10. ncbi request reprint Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients
    M Henriksson
    Department of Medicine, University of Helsinki, Finland
    J Invest Dermatol 106:346-50. 1996

Collaborators

Detail Information

Publications22

  1. ncbi request reprint Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families
    Raili Kauppinen
    Department of Medicine, Division of Endocrinology, University Hospital of Helsinki, 00029 HUS Helsinki, Finland
    Clin Chem 48:1891-900. 2002
    ..We studied the diagnostic accuracy of current laboratory tests during an acute attack and in remission...
  2. ncbi request reprint Molecular diagnostics of acute intermittent porphyria
    Raili Kauppinen
    Department of Medicine, University Hospital of Helsinki, Biomedicum Helsinki, BOX 700 00029 HUS, Helsinki, Finland
    Expert Rev Mol Diagn 4:243-9. 2004
    ..Increasing knowledge of pharmacogenetics may identify the patients who are at high risk for clinical manifestations...
  3. ncbi request reprint Porphyrias
    Raili Kauppinen
    Research Program in Molecular Medicine, Biomedicum Helsinki, University of Helsinki, Finland
    Lancet 365:241-52. 2005
    ..Early diagnosis and information about precipitating factors can diminish mortality and prevent subsequent attacks among patients with acute porphyrias, so mutation screening is recommended for family members...
  4. ncbi request reprint Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect
    R Kauppinen
    Department of Medicine, Division of Diabetology, Dermatology and Clinical Chemistry of the University of Helsinki, Finland
    J Invest Dermatol 116:610-3. 2001
    ....
  5. ncbi request reprint Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria
    S Mustajoki
    Department of Medicine, Division of Endocrinology, Helsinki University Central Hospital, FIN 00290 Helsinki, Finland
    Genome Res 7:1054-60. 1997
    ....
  6. pmc Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients
    M von und zu Fraunberg
    Department of Medicine, University Central Hospital of Helsinki, Finland
    Mol Med 7:320-8. 2001
    ..To date we have characterized 109 VP patients representing 19 VP families in the Finnish population of 5 million, both biochemically and clinically...
  7. ncbi request reprint Insertion of Alu element responsible for acute intermittent porphyria
    S Mustajoki
    Department of Medicine, Helsinki University Central Hospital, Finland
    Hum Mutat 13:431-8. 1999
    ..The mutated construct expressed no enzyme activity comparable to that of the wild-type PBGD; furthermore, no mutant protein could be detected by Western blot analysis...
  8. pmc Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells
    S Mustajoki
    Department of Medicine, Helsinki University Central Hospital, Finland
    Mol Med 6:670-9. 2000
    ..Although molecular biological studies on the porphobilinogen deaminase (PBGD) gene have revealed several mutations responsible for AIP, the properties of mutant PBGD in eukaryotic expression systems have not been studied previously...
  9. ncbi request reprint Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria
    S Mustajoki
    Department of Medicine, Helsinki University Central Hospital, Finland
    Hum Genet 102:541-8. 1998
    ..So far 25 different mutations have been characterized from 37 (93%) of a total of 40 unrelated Finnish AIP families, confirming the genetic heterogeneity of the disease even in a previously isolated area of Finland...
  10. ncbi request reprint Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients
    M Henriksson
    Department of Medicine, University of Helsinki, Finland
    J Invest Dermatol 106:346-50. 1996
    ....
  11. ncbi request reprint Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria
    Elena Pischik
    Research Program in Molecular Medicine, Biomedicum Helsinki, University of Helsinki, Finland
    Hum Mutat 26:496. 2005
    ..The diversity of mutations may reflect the old international history of Saint Petersburg and immigration of people from other parts of Europe...
  12. ncbi request reprint Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene
    R Kauppinen
    Third Department of Medicine, University Hospital of Helsinki, Finland
    Hum Mol Genet 4:215-22. 1995
    ..Of a total of 81 family members, 30 of whom had deficiency of PBGD confined to non-erythroid tissues, diagnosis at the asymptomatic stage of disease in 11 individuals (14%) required the application of mutation screening...
  13. ncbi request reprint Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients
    Mikael von und zu Fraunberg
    Department of Medicine, Division of Endocrinology, University Central Hospital of Helsinki, Biomedicum Helsinki, Helsinki, Finland
    Eur J Hum Genet 10:649-57. 2002
    ..All patients with an excretion of more than 1,000 nmol/day experienced either skin symptoms, acute attacks, or both...
  14. ncbi request reprint Mitochondrial targeting of normal and mutant protoporphyrinogen oxidase
    Mikael von und zu Fraunberg
    Department of Medicine, Division of Endocrinology, University of Helsinki, Biomedicum Helsinki, 00029 HUS, Helsinki, Finland
    J Biol Chem 278:13376-81. 2003
    ....
  15. ncbi request reprint Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria
    Mikael von und zu Fraunberg
    Research Program in Molecular Medicine, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Medicine (Baltimore) 84:35-47. 2005
    ..Proper counseling contributed to the prevention of subsequent attacks in 60% of previously symptomatic and in 95% of previously symptom-free patients...
  16. pmc Acute hepatic porphyria and hepatocellular carcinoma
    R Kauppinen
    Third Department of Medicine, University of Helsinki, Finland
    Br J Cancer 57:117-20. 1988
    ..In acute hepatic porphyria, as compared with the total population, the calculated risk of hepatocellular carcinoma is increased 61-fold...
  17. ncbi request reprint Vascular changes in erythropoietic protoporphyria: histopathologic and immunohistochemical study
    K Timonen
    Department of Dermatology, Divisions of Endocrinology and Nephrology, University Hospital of Helsinki, Finland
    J Am Acad Dermatol 43:489-97. 2000
    ..Amorphous deposits distinguish EPP from variegate porphyria and porphyria cutanea tarda; a histopathologic examination may be a helpful tool in differentiating porphyric and nonporphyric photosensitivity...
  18. ncbi request reprint Neurological manifestations of acute intermittent porphyria
    E Pischik
    Department of Medicine, Division of Endocrinology, Porphyria Research Unit, University Central Hospital of Helsinki, Helsinki, Finland
    Cell Mol Biol (Noisy-le-grand) 55:72-83. 2009
    ..Currently the prognosis of neuropathy and encephalopathy in AIP is good even in severe attacks, but physicians should be aware of a potentially fatal outcome of the disease...
  19. ncbi request reprint Can pregnancy stop cyclical attacks of porphyria?
    Elena Pischik
    Research Program in Molecular Medicine, Biomedicum Helsinki, Department of Medicine, University of Helsinki, Finland
    Am J Med 119:88-90. 2006
  20. doi request reprint Is screening for urinary porphobilinogen useful among patients with acute polyneuropathy or encephalopathy?
    Elena Pischik
    Research Program in Molecular Medicine, Porphyria Research Centre, Biomedicum Helsinki, C427a, University of Helsinki, 700, Haartmaninkatu 8, 00029 HUS Helsinki, Finland
    J Neurol 255:974-9. 2008
    ..Since the correct diagnosis of a hereditary disease is essential, genetic screening should be performed whenever possible for patients with clinically and biochemically confirmed acute porphyria...
  21. doi request reprint Lead poisoning from the beauty case: neurologic manifestations in an elderly woman
    Elena Pischik
    Neurology 71:302; author reply 302-3. 2008
  22. ncbi request reprint Clinical features predictive of a poor prognosis in acute porphyria
    Elena Pischik
    J Neurol 251:1538-41. 2004