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Inherited lysosomal storage disease in an English springer spaniel

Inherited lysosomal storage disease in an English springer spaniel

Journal of the American Veterinary Medical Association 200(2): 194-195

Alpha-L-fucosidosis was diagnosed in a 17-month-old English Springer Spaniel with a history of slow development and progressive visual impairment. Lymphocytes and mononuclear cells with vacuolated cytoplasm were seen in a blood smear and in CSF, respectively. A severe deficiency of alpha -L-fucosidase activities in plasma and leukocytes was found. Histological examination revealed vacuolation of neurons, macrophages and epithelial cells in most organ tissues.

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Accession: 002139694

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PMID: 1559875

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