Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases

Metabolic Brain Disease

Volumn 29, Issue 1, 2014, Pages 1-8

  Jakóbkiewicz Banecka, Joanna ^a   Gabig Cimińska, Magdalena ^a   Banecka Majkutewicz, Zyta ^b   Banecki, Bogdan ^a   Węgrzyn, Alicja ^c   Wȩgrzyn, Grzegorz ^a  

^a UNIVERSITY OF GDA SK   (Poland)

^b MEDICAL UNIVERSITY OF GDANSK   (Poland)

^c UNIVERSITY OF SZCZECIN   (Poland)

Author keywords

Factors modulating disease severity; Genotype phenotype correlations; Inherited metabolic diseases; Lysosomal storage diseases; Neuronopathic forms of heritable disorders

Indexed keywords

LYSOSOME ENZYME; ENZYME;

BRAIN FUNCTION; DISEASE COURSE; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; ENZYME DEFICIENCY; FABRY DISEASE; GENE EXPRESSION; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LYSOSOME STORAGE DISEASE; MAROTEAUX LAMY SYNDROME; METACHROMATIC LEUKODYSTROPHY; NONHUMAN; PHENOTYPE; PHYSIOLOGICAL PROCESS; REPRODUCIBILITY; REVIEW; ANIMAL; BEHAVIOR; BIOLOGICAL MODEL; DISEASE MODEL; ENZYMOLOGY; GENETICS; GENOTYPE; GENOTYPE ENVIRONMENT INTERACTION; KNOCKOUT MOUSE; LYSOSOME; METABOLISM; MOUSE; NERVE CELL; PATHOLOGY; PENETRANCE; PHYSIOLOGY; PSYCHOLOGY;

ANIMALIA;

ANIMALS; BEHAVIOR; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; ENZYMES; GENE-ENVIRONMENT INTERACTION; GENOTYPE; HUMANS; LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM; LYSOSOMES; METABOLIC NETWORKS AND PATHWAYS; MICE; MICE, KNOCKOUT; MODELS, BIOLOGICAL; NEURONS; PENETRANCE; PHENOTYPE;

EID: 84895882851     PISSN: 08857490     EISSN: 15737365     Source Type: Journal    
DOI: 10.1007/s11011-013-9455-6     Document Type: Review

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