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  • DNA-analysis  (1)
  • Waldenström's macroglobulinemia  (1)
  • 1
    Digitale Medien
    Digitale Medien
    Deposits of paraprotein in small vessels as a cause of skin ulcers in Waldenström's macroglobulinemia (1993)
    Springer
    Journal of molecular medicine 72 (1993), S. 46-49 
    Details
    ISSN: 1432-1440
    Schlagwort(e): Waldenström's macroglobulinemia ; Paraproteinemia ; Cryoglobulinemia ; Skin ulcers
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary A 71-year-old man presented with epistaxis and large ulcers on arms and legs. A monoclonal IgM-kappa gammopathy and high levels of cryoglobulins were found. Histology of the affected skin showed deposits of paraprotein in the small vessels, causing luminal obstruction. This in turn caused ischemic skin lesions, which were successfully treated with cortisone (fluocortolone 100 mg/day every second day) and cyclophosphamide (100 mg/day).
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00231116
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Myoadenylate deaminase deficiency with severe rhabdomyolysis (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 513-515 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Myoadenylate deaminase deficiency ; Rhabdomyolysis ; DNA-analysis
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A 13-year-old Turkish girl was admitted because of recurrent episodes of muscle pain and weakness since the age of 5 years. As an outpatient she developed severe acute rhabdomyolysis (myoglobinuria and increased serum creatine kinase level of 19000 units/l). The acute rhabdomyolysis and the preceding episodes of muscle pain and weakness had been induced by exercise. There was no increase in plasma ammonia level during ischaemic forearm exercise test and bicycle ergometry. Myoadenylate deaminase deficiency was proven both histochemically and biochemically. The girl was found to be homozygous for the C 34-T mutation of the AMPD1 gene causing primary myoadenylate deaminase deficiency in skeletal muscle. Both parents and her brother were heterozygous for that mutation. Myoadenylate deaminase deficiency has to be considered as a cause of severe rhabdomyolysis.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01955062
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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