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  1. Botross NP, Riad AA, Viswanathan S, Nordin RB, Lock HN
    Scott Med J, 2014 May;59(2):e1-6.
    PMID: 24671628 DOI: 10.1177/0036933014529868
    Gaucher's disease is a lysosomal storage disorder caused by the deficiency of glucocerebrosidase. Gaucher's disease has three clinical types: non-neuronopathic (Type 1), Acute Neuropathic (Type 2) and chronic neuronopathic (Type 3). The chronic neuronopathic (Type 3) is characterised by a variety of disease variants with onset in childhood with hepatomegaly, skeletal lesions and later slow horizontal saccades, treatment-resistant generalised tonic-clonic and myoclonic seizures, dementia, progressive spasticity, cognitive deterioration, ataxia and death in the second or third decade of life.
    Matched MeSH terms: Apraxias/physiopathology
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