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

• Main Authors: Renard Dimitri (Author), Garcés Violeta (Author), Nieto Michèle (Author), Labauge Pierre (Author), Stensland Hilde (Author), Sabourdy Frédérique (Author), Castelnovo Giovanni (Author), de Champfleur Nicolas (Author), Levade Thierry (Author)
• Format: Book
• Published: BMC, 2009-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>β-Mannosidosis (OMIM 248510) is a rare inborn lysosomal storage disorder caused by the deficient activity of β-mannosidase, an enzyme encoded by a single gene (<it>MANBA</it>) located on chromosome 4q22-25. To date, only...