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Molekulární diagnostika dědičných forem intrahepatální cholestázy a familiárních hyperbilirubinémií
[Molecular diagnosis of hereditary canalicular cholestasis and familial hyperbilirubinemias]
Milan Jirsa
Language Czech Country Czech Republic
Document type Review
Digital library NLK
Issue
Volume
Source
Source
NLK
Medline Complete (EBSCOhost)
from 2011-01-01
- Keywords
- progresivní familiární intrahepatální cholestáza, rekurentní familiární intrahepatální cholestáza, těhotenská intrahepatální cholestáza, Dubin-Johnsonův syndrom, Rotorův syndrom, Pathology, Molecular,
- MeSH
- Cholestasis diagnosis genetics MeSH
- Diagnosis, Differential MeSH
- Hyperbilirubinemia diagnosis genetics MeSH
- Humans MeSH
- Molecular Biology MeSH
- Mutation MeSH
- Disease Progression MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
Molecular and differential diagnosis of hereditary canalicular cholestasis and predominantly conjugated jaundice, both characterised by autosomal recessive pattern of inheritance and low prevalence, is described. Classification of the disorders is presented in the introduction. Detailed description of clinical, laboratory and histology findings and typical results of mutation analysis follows. Published and yet unpublished results obtained in the Laboratory of Experimental Hepatology, IKEM, since 2002, are presented at the end.
Molecular diagnosis of hereditary canalicular cholestasis and familial hyperbilirubinemias
Lit.: 71
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