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Literature summary for 3.2.1.45 extracted from

  • Goker-Alpan, O.; Wiggs, E.A.; Eblan, M.J.; Benko, W.; Ziegler, S.G.; Sidransky, E.; Schiffmann, R.
    Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease (2008), J. Pediatr., 153, 89-94.
    View publication on PubMed

Application

Application Comment Organism
medicine study on children with type 3 Gaucher disease who had received enzyme replacement therapy or a bone marrow transplant. 60% of subjects have intelectual skills below average with significant discrepancies between verbal and performance IQ. No correlation between intelligence measures and genotype or the extent of systemic involvement. The dosage, age at initiation, and the length of enzyme replacement therapy had no significant effect on IQ scores Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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children with chronic neuronopathic Gaucher disease
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