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Lysosomal Acid Lipase Activity Is Reduced Both in Cryptogenic Cirrhosis and in Cirrhosis of Known Etiology

Lysosomal acid lipase deficiency (LAL-d) is a rare autosomal recessive disease in which LAL activity is almost absent, with consequent massive microvesicular steatosis evolving to cirrhosis and liver failure. We aimed to determine LAL-activity, and to investigate the most common single nucleotide po...

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Detalles Bibliográficos
Autores principales: Vespasiani-Gentilucci, Umberto, Gallo, Paolo, Piemonte, Fiorella, Riva, Elisabetta, Porcari, Aldostefano, Vorini, Ferruccio, Tozzi, Giulia, Piccioni, Livia, Galati, Giovanni, De Vincentis, Antonio, Carotti, Simone, Morini, Sergio, D’Amico, Jessica, Angeletti, Silvia, Pedone, Claudio, Picardi, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4878774/
https://www.ncbi.nlm.nih.gov/pubmed/27219619
http://dx.doi.org/10.1371/journal.pone.0156113