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A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant |
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Titel: |
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant |
Auteur: |
Sabourdy, Frédérique Labauge, Pierre Stensland, Hilde Monica Frostad Riise Nieto, Michèle Garcés, Violeta Latorre Renard, Dimitri Castelnovo, Giovanni de Champfleur, Nicolas Levade, Thierry |
Verschenen in: |
BMC medical genetics |
Paginering: |
Jaargang 10 (2009) nr. 1 pagina's xx |
Jaar: |
2009-09 |
Inhoud: |
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Uitgever: |
Biomed Central , London |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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