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Genetics in Medicine, ISSN 1098-3600, 2017, Volume 19, Issue 11, pp. 1226 - 1235
Journal Article
REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS, ISSN 1130-0108, 2017, Volume 109, Issue 8, pp. 599 - U153
Journal Article
European Journal of Neurology, ISSN 1351-5101, 06/2017, Volume 24, Issue 6, pp. 768 - e31
Journal Article
Molecular Therapy, ISSN 1525-0016, 11/2014, Volume 22, Issue 11, pp. 2004 - 2012
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Journal Article
Biochemistry (Moscow), ISSN 0006-2979, 7/2013, Volume 78, Issue 7, pp. 721 - 725
The lysosomal storage disorders (LSD) represent a heterogeneous group of inherited diseases characterized by the accumulation of non-metabolized macromolecules... 
Life Sciences | Biochemistry, general | inherited diseases | Microbiology | lysosomes | animal model | lysosomal storage disorders (LSD) | Bioorganic Chemistry | Biomedicine general | AUTOPHAGIC DYSFUNCTION | BIOCHEMISTRY & MOLECULAR BIOLOGY | FABRY-DISEASE | MOUSE MODELS | REPLACEMENT | THERAPY | ENZYME | PATHOGENIC CASCADES | TAY-SACHS | Recombinant Proteins - therapeutic use | Serine Proteases - genetics | Niemann-Pick Disease, Type C - drug therapy | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - therapeutic use | Humans | Glycogen Storage Disease Type II - drug therapy | Recombinant Proteins - biosynthesis | Glycogen Storage Disease Type II - pathology | Niemann-Pick Disease, Type C - pathology | Niemann-Pick Disease, Type C - metabolism | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - metabolism | alpha-Glucosidases - therapeutic use | Lysosomal Storage Diseases - drug therapy | Aminopeptidases - therapeutic use | Drug Evaluation, Preclinical | Aminopeptidases - metabolism | Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics | Disease Models, Animal | Serine Proteases - metabolism | Aminopeptidases - genetics | Recombinant Proteins - genetics | Lysosomal Storage Diseases - pathology | Serine Proteases - therapeutic use | alpha-Glucosidases - genetics | Animals | Glycogen Storage Disease Type II - metabolism | Lysosomal Storage Diseases - metabolism | alpha-Glucosidases - metabolism | Lysosomes | Physiological aspects | Genetic disorders | Health aspects | Biochemistry | Glycoproteins | Pathogenesis
Journal Article
Journal Article