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A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant
by
Sabourdy, Frédérique
,
Labauge, Pierre
,
Stensland, Hilde Monica Frostad Riise
,
Nieto, Michèle
,
Garcés, Violeta Latorre
,
Renard, Dimitri
,
Castelnovo, Giovanni
,
de Champfleur, Nicolas
,
Levade, Thierry
Published in
BMC genetics
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A MANBAmutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant
by
Sabourdy, Frédérique
,
Labauge, Pierre
,
Stensland, Hilde Monica Frostad Riise
,
Nieto, Michèle
,
Garcés, Violeta Latorre
,
Renard, Dimitri
,
Castelnovo, Giovanni
,
de Champfleur, Nicolas
,
Levade, Thierry
Published in
BMC medical genetics
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Bmc Medical Genetics
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Bmc Genetics
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Beta-Mannosidase
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Beta-Mannosidase - Deficiency
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Beta-Mannosidase - Genetics
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Beta-Mannosidosis
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Beta-Mannosidosis - Complications
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Beta-Mannosidosis - Genetics
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Blotting, Western
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Cell Line
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Child
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Complications And Side Effects
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Deficiency Diseases
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Dementia, Vascular
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Dementia, Vascular - Complications
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Dementia, Vascular - Genetics
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Deoxyribonucleic Acid
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Dna
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Dna Mutational Analysis
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E Coli
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Enzymes
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Female
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