Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients

by Raül Santamaria, Amparo Chabás, John W. Callahan, Daniel Grinberg, Lluïsa Vilageliu
Published 2007-10-01

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases

by Befekadu Asfaw, Jana Ledvinová, Robert Dobrovolńy, Henk D. Bakker, Robert J. Desnick, Otto P. van Diggelen, Jan G.N. de Jong, Tamotsu Kanzaki, Amparo Chabas, Irene Maire, Ernst Conzelmann, Detlev Schindler
Published 2002-07-01