The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement
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Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptomsA recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.A Missense Mutation in the Vacuolar Protein Sorting 11 () Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs
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The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 29 July 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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The second report of a new hyp ...... massive lysosomal involvement
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The second report of a new hyp ...... massive lysosomal involvement.
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The second report of a new hyp ...... massive lysosomal involvement
@en
The second report of a new hyp ...... massive lysosomal involvement.
@nl
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The second report of a new hyp ...... massive lysosomal involvement
@en
The second report of a new hyp ...... massive lysosomal involvement.
@nl
P2093
P2860
P1476
The second report of a new hyp ...... massive lysosomal involvement
@en
P2093
Antje Bornemann
Gabriele du Bois
Heidi Mayrhofer
Inge Krägeloh-Mann
Klaus Harzer
Konstanze Hörtnagel
Miriam Döcker
Saskia Biskup
P2860
P2888
P304
P356
10.1007/S10545-016-9961-X
P577
2016-07-29T00:00:00Z