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Showing 1 to 2 of 2 for “"Neuronal Ceroid Lipofuscinosis, Infantile"”.

  1. Examination of Abnormal Dolichol Metabolism in Infantile Batten Disease Caused by Palmitoyl Protein Thioesterase-1 (PPT1) Deficiency

    The neuronal ceroid lipofuscinosis (NCLs, also known collectively as Batten disease) are a group of lysosomal storage disorders characterized by the accumulation of autofluorescent storage material in the brain. Although a number of genes underlying different forms of NCL have been cloned, the …

    utswmed Repository record for Examination of Abnormal Dolichol Metabolism in Infantile Batten Disease Caused by Palmitoyl Protein Thioesterase-1 (PPT1) Deficiency (opens in a new tab)

  2. The Role of Astrocyte Activation in Infantile Neuronal Ceroid Lipofuscinosis

    Infantile neuronal ceroid lipofuscinoses: INCLs), or Batten Disease, is an inherited neurodegenerative lysosomal storage disorder affecting the central nervous system: CNS) during infancy or childhood. Hallmark pathological changes include accumulation of autofluorescent material, neuronal loss, …

    wustl Repository record for The Role of Astrocyte Activation in Infantile Neuronal Ceroid Lipofuscinosis (opens in a new tab)