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  • Title: The diagnostic value of sural nerve biopsy in metachromatic leucodystrophy and other conditions with low leucocyte arylsulphatase A activities.
    Author: Vos AJ, Joosten EM, Gabreëls-Festen AA, Gabreëls FJ, Notermans SL, Lamers KJ.
    Journal: Neuropediatrics; 1982 Feb; 13(1):42-6. PubMed ID: 6123090.
    Abstract:
    The value of sural nerve biopsy in the diagnosis of metachromatic leucodystrophy (MLD) was studied in 9 MLD-patients and 4 other patients with low arylsulphatase A (ASA)-activities in the leucocytes. In 7 patients (5 of them suffering from MLD) adequate interpretation of low ASA-activity was impossible, either because one of the parents also had low ADA-activity or because the obligatory information about the ASA-activity of the parents could not be obtained. In these cases sural nerve biopsy provided essential diagnostic information, correcting one false negative and two false positive diagnoses of clinical MLD.
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