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  • Title: [Skin biopsy in the diagnosis of metabolic encephalopathies].
    Author: Martin JJ, Ceuterick C, Leroy JG.
    Journal: Rev Neurol (Paris); 1976 Sep; 132(9):639-51. PubMed ID: 825940.
    Abstract:
    Ultrastructural study of the skin biopsies of 23 patients with either ceroid-lipofuscinoses, mucopolysaccharidoses, mucolipidoses, acid maltase deficiency or sphingolipidoses, demonstrates the presence of relatively typical cytosomes allowing a precise diagnosis at least as early as the time of the first clinical evaluation.
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