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dc.contributor.authorEiríkur Benedikz
dc.contributor.authorHannes Blöndal
dc.contributor.authorGunnar Guðmundsson
dc.date.accessioned2010-05-26T11:45:29Z
dc.date.available2010-05-26T11:45:29Z
dc.date.issued1989-10-15
dc.date.submitted2010-05-26
dc.identifier.citationLæknablaðið 1989, 75(8):277-82en
dc.identifier.issn0023-7213
dc.identifier.urihttp://hdl.handle.net/2336/99866
dc.descriptionNeðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn Skoða/Opna(view/open)en
dc.description.abstractClinically normal skin from 14 individuals with the diagnosis of Hereditary Cystatin C Amyloidosis (HCCA) was investigated. Their age ranged from 14-53 years and three of them had no clinical history or signs of the disease. In seven cases the diagnosis was verified post mortem. Cystatin C amyloid deposits were found in all 14 cases. Skin from 11 unaffected relatives and 10 unrelated individuals, who served as controls, was negative for amyloid in all cases. Punch biopsy of the skin is a simple procedure and appears to be a valid method for diagnosis of HCCA, even before the appearance of clinical symptoms.
dc.description.abstractÍ þessari grein verður lýst greiningu mýlildisútfellinga í húð 14 einstaklinga með arfgengan heilablæðingarsjúkdóm. Notagildi húðsýna til greiningar sjúkdómsins snemma í sjúkdómnum verður rætt.
dc.language.isoisen
dc.publisherLæknafélag Íslands, Læknafélag Reykjavíkuren
dc.relation.urlhttp://www.laeknabladid.isen
dc.subjectHeilablóðfallen
dc.subject.meshCystatinsen
dc.subject.meshAmyloiden
dc.subject.meshCystatin Cen
dc.subject.meshGenetic Diseases, Inbornen
dc.subject.meshSkinen
dc.titleArfgeng heilablæðing II : útfellingar sýstatín-C mýlildisefnis í húðis
dc.typeArticleen
dc.identifier.journalLæknablaðiðen
refterms.dateFOA2018-09-12T19:54:04Z
html.description.abstractClinically normal skin from 14 individuals with the diagnosis of Hereditary Cystatin C Amyloidosis (HCCA) was investigated. Their age ranged from 14-53 years and three of them had no clinical history or signs of the disease. In seven cases the diagnosis was verified post mortem. Cystatin C amyloid deposits were found in all 14 cases. Skin from 11 unaffected relatives and 10 unrelated individuals, who served as controls, was negative for amyloid in all cases. Punch biopsy of the skin is a simple procedure and appears to be a valid method for diagnosis of HCCA, even before the appearance of clinical symptoms.
html.description.abstractÍ þessari grein verður lýst greiningu mýlildisútfellinga í húð 14 einstaklinga með arfgengan heilablæðingarsjúkdóm. Notagildi húðsýna til greiningar sjúkdómsins snemma í sjúkdómnum verður rætt.


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