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Case conference concerning 9-year-old boy having 20 mmol/lcholesterol: from diagnosis to effective treatment
AV Susekov, ZG Luginova, AN Meshkov, EY Solovyova, TV Balakhonova, MA Saidova, TI Kotkina, MY Scherbakova, VV Davydkin, MA Dubovenko, AY Postnov, ZB Khasanova, GA Konovalov, VV Kukharchuk
Медицинский совет, Vol 0, Iss 12, Pp 106-110 (2014)
Sparad:
| Titel | Case conference concerning 9-year-old boy having 20 mmol/lcholesterol: from diagnosis to effective treatment |
|---|---|
| Författarna | AV Susekov, ZG Luginova, AN Meshkov, EY Solovyova, TV Balakhonova, MA Saidova, TI Kotkina, MY Scherbakova, VV Davydkin, MA Dubovenko, AY Postnov, ZB Khasanova, GA Konovalov, VV Kukharchuk |
| Utgivningsår |
2014
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| Källa |
Медицинский совет, Vol 0, Iss 12, Pp 106-110 (2014)
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| Beskrivning |
Familial hypercholesterolemia (FHC) is the most common and most severe form of monogenic dyslipidemia with early and rapidly progressing atherosclerosis and its complications [1--4, 12, 14]. Without treatment, the prognosis for patients with FHC is as heavy as for AIDS patients. For the first time the molecular defect - absence or dysfunction of the LDL receptor (LDL-R), the main route for cholesterol catabolism in humans [2, 3, 12, 13] - was described with regard to this genetic disease. The article analyzes a clinical case of the disease in a 9-year-old boy.
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| Dokumenttyp |
article
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| Språk |
Russian
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| Information om utgivare |
Remedium Group LLC, 2014.
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| Ämnestermer | |
