A <it>MANBA </it>mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant

by Renard Dimitri, Garcés Violeta, Nieto Michèle, Labauge Pierre, Stensland Hilde, Sabourdy Frédérique, Castelnovo Giovanni, de Champfleur Nicolas, Levade Thierry
Published 2009-09-01