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  1. No Access

    Article

    Inefficient cleavage of palmitoyl-protein thioesterase (PPT) substrates by aminothiols: Implications for treatment of infantile neuronal ceroid lipofuscinosis

    Infantile neuronal ceroid lipofuscinosis (INCL, also known as infantile Batten disease) is a devastating neurodegenerative disorder caused by deficiency in the lysosomal enzyme palmitoyl-protein thioesterase (...

    J.-Y. Lu, S. L. Hofmann in Journal of Inherited Metabolic Disease (2006)

  2. No Access

    Article

    Neuronal ceroid lipofuscinosis/Batten disease: the lysosomal proteinoses

    P Gupta, S L Hofmann in Molecular Psychiatry (2002)

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    Article

    The neuronal ceroid-lipofuscinoses (Batten disease): A new class of lysosomal storage diseases

    The neuronal ceroid-lipofuscinoses (Batten disease) are a group of severe neurodegenerative disorders characterized clinically by visual loss, seizures and psychomotor degeneration, and pathologically by loss ...

    M. J. Bennett, S. L. Hofmann in Journal of Inherited Metabolic Disease (1999)