Biochemia Medica, Vol. 17 No. 2, 2007.
Other
Severe cholestasis in a newborn with PiZZ alpha-1-antitrypsingenotype - A case report
Marijana Žirović
Andrea Tešija Kuna
Nora Nikolac
Mario Štefanović
Elizabeta Topić
Orjena Žaja-Franulović
Zvonimir Jurčić
Abstract
Severe intrahepatic cholestasis associated with alpha-1-antitrypsin deficiency was confirmed in a newborn. Geno-typing and phenotyping of the newborn and his parents revealed PiZZ genotype in the newborn, PiSZ genotype in his mother and PiMZ in his father. PiSZ genotype is a very rare AAT genotype which was detected in our 7-years of genotyping and 11 years of phenotyping for the first time.
Keywords
Hrčak ID:
18140
URI
Publication date:
28.11.2007.
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