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

BACKGROUND: 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 (MANBA) located on chromosome 4q22-25. To date, only 20 cases of this autosomal recessive disorder have been described and 14 dif...

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Detalles Bibliográficos
Autores principales: Sabourdy, Frédérique, Labauge, Pierre, Stensland, Hilde Monica Frostad Riise, Nieto, Michèle, Garcés, Violeta Latorre, Renard, Dimitri, Castelnovo, Giovanni, de Champfleur, Nicolas, Levade, Thierry
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2745377/
https://www.ncbi.nlm.nih.gov/pubmed/19728872
http://dx.doi.org/10.1186/1471-2350-10-84

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