Gianluca Caridi, Elif Yilmaz Gulec, Monica Campagnoli, Francesca Lugani, Hasan Onal, Duzgun Kilic, Monica Galliano, Lorenzo Minchiotti
Case Report, Volume 26, June, Issue 2
KEYWORDS: congenital analbuminemia; DNA mutational analysis; single base deletion; frame-shift
Ines Potočnjak, Goran Tešović, Andrea Tešija Kuna, Mario Štefanović, Orjena Žaja
Case report, Volume 24, October, Issue 3
KEYWORDS: cytomegalovirus infections; congenital; alpha 1-antitrypsin deficiency; ganciclovir
Gianluca Caridi, Monica Dagnino, Omer Erdeve, Marco Di Duca, Duran Yildiz, Serdar Alan, Begum Atasay, Saadet Arsan, Monica Campagnoli, Monica Galliano, Lorenzo Minchiotti
Case report, Volume 24, February, Issue 1
KEYWORDS: human serum albumin; albumin gene; congenital analbuminemia; DNA and cDNA sequence analysis; splicing mutation
Sandra Supraha Goreta, Sanja Dabelic, Jerka Dumic
Review, Volume 22, June, Issue 2
KEYWORDS: congenital disorders of glycosylation; CDG; diagnostics; therapy
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