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https://olympias.lib.uoi.gr/jspui/handle/123456789/19278Full metadata record
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Milionis, H. J. | en |
| dc.contributor.author | Miltiadous, G. A. | en |
| dc.contributor.author | Cariolou, M. | en |
| dc.contributor.author | Elisaf, M. S. | en |
| dc.date.accessioned | 2015-11-24T18:58:26Z | - |
| dc.date.available | 2015-11-24T18:58:26Z | - |
| dc.identifier.issn | 0803-5253 | - |
| dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/19278 | - |
| dc.rights | Default Licence | - |
| dc.subject | Child, Preschool | en |
| dc.subject | Female | en |
| dc.subject | Homozygote | en |
| dc.subject | Humans | en |
| dc.subject | Hyperlipoproteinemia Type II/complications/*diagnosis | en |
| dc.subject | Xanthomatosis/*etiology | en |
| dc.title | Pinpoint skin lesions in a familial hypercholesterolaemia homozygote | en |
| heal.type | journalArticle | - |
| heal.type.en | Journal article | en |
| heal.type.el | Άρθρο Περιοδικού | el |
| heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/14599079 | - |
| heal.identifier.secondary | http://onlinelibrary.wiley.com/store/10.1111/j.1651-2227.2003.tb02586.x/asset/j.1651-2227.2003.tb02586.x.pdf?v=1&t=h0m8uzi1&s=27bcaa09cd44d2587289b137261fca664c608995 | - |
| heal.language | en | - |
| heal.access | campus | - |
| heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
| heal.publicationDate | 2003 | - |
| heal.abstract | The case is reported of a 2-y-old girl referred to the outpatient lipid clinic because of a tiny cutaneous xanthoma on the dorsum of the left foot and a family history of hyperlipidaemia and coronary heart disease (CHD). Fasting serum total cholesterol levels were remarkably high (27.1 mmol l(-1), 1050 mg dl(-1)) and DNA analysis confirmed homozygous familial hypercholesterolaemia (class II mutation). Serum lipids were not affected by dietary intervention and cholestyramine treatment, so low-density lipoprotein apheresis was scheduled to commence at the age of 4 y. Conclusion: An early lipid profile determination should be performed in children with a family history of premature CHD, since the physical examination may be unremarkable even in cases of severe hyperlipidaemia during the first years of life. | en |
| heal.journalName | Acta Paediatr | en |
| heal.journalType | peer-reviewed | - |
| heal.fullTextAvailability | TRUE | - |
| Appears in Collections: | Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ | |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Milionis-2003-Pinpoint skin lesion.pdf | 139.01 kB | Adobe PDF | View/Open Request a copy |
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