About: A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.   Goto Sponge  NotDistinct  Permalink

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Author
Bibliographic Citation
  • Sabourdy Frédérique, Labauge Pierre, Stensland Hilde, Nieto Michèle, Garcés Violeta, Renard Dimitri, Castelnovo Giovanni, Menjot De Champfleur Nicolas. A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.. BMC Medical Genetics, BioMed Central, 2009, 10 (1), pp.84. ⟨10.1186/1471-2350-10-84⟩
  • Sabourdy Frédérique, Labauge Pierre, Stensland Hilde, Garcés Violeta, Renard Dimitri, Castelnovo Giovanni, Menjot de Champfleur Nicolas. A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.. BMC Medical Genetics, 2009, 10 (1), pp.84. ⟨10.1186/1471-2350-10-84⟩
Title
  • A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
dc:date
  • 2009
Digital Object Identifier (DOI)
  • 10.1186/1471-2350-10-84
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