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  • Title: Partial enzyme deficiencies: residual activities and the development of neurological disorders.
    Author: Conzelmann E, Sandhoff K.
    Journal: Dev Neurosci; ; 6(1):58-71. PubMed ID: 6421563.
    Abstract:
    A theoretical discussion on the correlation between residual enzyme activities in inherited enzyme deficiencies and the development of neurological disorders is presented, based on the kinetic analysis of a simple model. Several metabolic diseases with wide spectra of clinical presentation are discussed in relation to this model.
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