S Thunell

Summary

Affiliation: Karolinska Institutet
Country: Sweden

Publications

  1. ncbi Porphyrins, porphyrin metabolism, porphyrias. III. Diagnosis, care and monitoring in porphyria cutanea tarda--suggestions for a handling programme
    S Thunell
    Porphyria Centre Sweden, CMMS, Huddinge University Hospital, Stockholm, Sweden
    Scand J Clin Lab Invest 60:561-79. 2000
  2. ncbi Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria
    Asa Wiman
    Porphyria Centre Sweden, C2 71, Department of Medical Laboratory Sciences and Technology, Division of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital, Stockholm SE 141 86, Sweden
    J Hum Genet 48:70-6. 2003
  3. ncbi Porphyrins, porphyrin metabolism and porphyrias. IV. Pathophysiology of erythyropoietic protoporphyria--diagnosis, care and monitoring of the patient
    S Thunell
    Porphyria Centre Sweden, CMMS, Huddinge University Hospital, Stockholm, Sweden
    Scand J Clin Lab Invest 60:581-604. 2000
  4. ncbi Porphyrins, porphyrin metabolism and porphyrias. II. Diagnosis and monitoring in the acute porphyrias
    S Thunell
    Porphyria Centre Sweden, CMMS, Huddinge University Hospital, Stockholm, Sweden
    Scand J Clin Lab Invest 60:541-59. 2000
  5. ncbi Porphyrins, porphyrin metabolism and porphyrias. I. Update
    S Thunell
    Porphyria Centre Sweden, CMMS, Huddinge University Hospital, Sweden
    Scand J Clin Lab Invest 60:509-40. 2000
  6. ncbi Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria
    Asa Wiman
    Porphyria Centre Sweden, C2 71, Department of Medical Laboratory Sciences and Technology, Division of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital, SE 141 86 Stockholm, Sweden
    J Hum Genet 47:407-12. 2002
  7. ncbi Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families
    G Lundin
    Department of Molecular Medicine Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    Hum Genet 100:63-6. 1997
  8. ncbi Effects of administration of antioxidants in acute intermittent porphyria
    S Thunell
    Porphyria Centre Sweden, Stockholm
    Eur J Clin Chem Clin Biochem 35:427-33. 1997
  9. ncbi Porphyria in Sweden
    S Thunell
    Porphyria Centre Sweden, CMMS C2 71, Karolinska University Hospital Huddinge, Stockholm, Sweden
    Physiol Res 55:S109-18. 2006
  10. ncbi Large phlebotomy in variegate porphyria
    P Harper
    Porphyria Centre Sweden, Karolinska Institute, St Goran s Hospital, Stockholm, Sweden
    J Intern Med 242:255-9. 1997

Collaborators

  • P Harper
  • J S Lee
  • U Lindh
  • N E Petersen
  • Asa Wiman
  • G Lundin
  • Ylva Floderus
  • M Maruno
  • Y Floderus
  • M Anvret
  • K Furuyama
  • L Verstraeten
  • S Sassa
  • K Meguro
  • R Mercelis
  • N Chiorazzi
  • Y Horie
  • M O Doss
  • A Hassoun
  • L Garbaczewski
  • R Akagi
  • J Hashemi
  • W Wassif
  • E Sagen
  • A Laegreid
  • T Peters
  • A Wedell

Detail Information

Publications14

  1. ncbi Porphyrins, porphyrin metabolism, porphyrias. III. Diagnosis, care and monitoring in porphyria cutanea tarda--suggestions for a handling programme
    S Thunell
    Porphyria Centre Sweden, CMMS, Huddinge University Hospital, Stockholm, Sweden
    Scand J Clin Lab Invest 60:561-79. 2000
    ..With the pathogenic model as a basis the different therapeutic strategies that can be applied are discussed, and suggestions for a handling programme for the patient presenting with PCT put forward...
  2. ncbi Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria
    Asa Wiman
    Porphyria Centre Sweden, C2 71, Department of Medical Laboratory Sciences and Technology, Division of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital, Stockholm SE 141 86, Sweden
    J Hum Genet 48:70-6. 2003
    ..Mild clinical and biochemical EPP signs may, however, be present in individuals carrying a T at position IVS3-48 in trans to a mutated allele, because this was the case in one of the individuals investigated in the present study...
  3. ncbi Porphyrins, porphyrin metabolism and porphyrias. IV. Pathophysiology of erythyropoietic protoporphyria--diagnosis, care and monitoring of the patient
    S Thunell
    Porphyria Centre Sweden, CMMS, Huddinge University Hospital, Stockholm, Sweden
    Scand J Clin Lab Invest 60:581-604. 2000
    ....
  4. ncbi Porphyrins, porphyrin metabolism and porphyrias. II. Diagnosis and monitoring in the acute porphyrias
    S Thunell
    Porphyria Centre Sweden, CMMS, Huddinge University Hospital, Stockholm, Sweden
    Scand J Clin Lab Invest 60:541-59. 2000
    ....
  5. ncbi Porphyrins, porphyrin metabolism and porphyrias. I. Update
    S Thunell
    Porphyria Centre Sweden, CMMS, Huddinge University Hospital, Sweden
    Scand J Clin Lab Invest 60:509-40. 2000
    ..In most forms of porphyria the gene carriers run the risk of development of associated diseases in liver or kidneys, a circumstance that prompts application of well-structured surveillance programs...
  6. ncbi Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria
    Asa Wiman
    Porphyria Centre Sweden, C2 71, Department of Medical Laboratory Sciences and Technology, Division of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital, SE 141 86 Stockholm, Sweden
    J Hum Genet 47:407-12. 2002
    ..The present study contributes 2 novel mutations to the 34 that have been previously reported to cause HCP. In addition, this is the first report on patients carrying two HCP-coupled mutations on one allele...
  7. ncbi Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families
    G Lundin
    Department of Molecular Medicine Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    Hum Genet 100:63-6. 1997
    ..Three of them are newly discovered and unique to the Swedish population: a splice mutation in intron 6 (int6+1), a missense mutation in exon 11 (Gly216Asp) and a TG deletion in exon 14...
  8. ncbi Effects of administration of antioxidants in acute intermittent porphyria
    S Thunell
    Porphyria Centre Sweden, Stockholm
    Eur J Clin Chem Clin Biochem 35:427-33. 1997
    ....
  9. ncbi Porphyria in Sweden
    S Thunell
    Porphyria Centre Sweden, CMMS C2 71, Karolinska University Hospital Huddinge, Stockholm, Sweden
    Physiol Res 55:S109-18. 2006
    ....
  10. ncbi Large phlebotomy in variegate porphyria
    P Harper
    Porphyria Centre Sweden, Karolinska Institute, St Goran s Hospital, Stockholm, Sweden
    J Intern Med 242:255-9. 1997
    ....
  11. ncbi Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria
    G Lundin
    Department of Clinical Genetics Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    J Med Genet 32:979-81. 1995
    ..Two mutations were identified in Swedish families, one splicing mutation in the first position of intron 3 (Int3 + 1) and one missense mutation in exon 8 (Pro119)...
  12. ncbi (Far) Outside the box: genomic approach to acute porphyria
    S Thunell
    Centre for Inborn Metabolic Disorders, Karolinska University Hospital Huddinge, Stockholm, Sweden
    Physiol Res 55:S43-66. 2006
    ..Constitutional differences in individual porphyric morbidity may be discussed along lines of mutations or duplications of genes for co-activating or co-repressing nuclear proteins active at different levels within the circuits...
  13. ncbi Highly heterogeneous nature of delta-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria
    M Maruno
    Rockefeller University, New York, NY; Okayama Prefectural University, Okayama, Japan
    Blood 97:2972-8. 2001
    ..This study represents the first complete analysis of 9 mutants of ALAD identified in ADP and indicates the highly heterogeneous nature of mutations in this disorder...
  14. ncbi Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles
    G Lundin
    Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    Hum Genet 93:59-62. 1994
    ..The second mutation is a C to T substitution in exon 10, changing Arg201 to Trp. This mutation can be detected by restriction enzyme cleavage...