Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Progressive ataxia, proprioceptive deficits, dysphagia and wasting occurred in a female and a male from the same litter of Springer Spaniels after the age of 12 and 19 months. At autopsy both showed marked enlargement of cranial parts of vagus and cervical nerves and dorsal root ganglia, and there was widespread vacuolation of cells of central nervous system (CNS), some peripheral nerves and of epithelial and mesenchymal cells of many organs; these vacuoles were largely empty in histological material, and were assumed to be of lysosomal origin after electron-microscopic study. Cultured fibroblasts and peripheral blood leucocytes from the male were shown to be severely deficient in alpha-L-fucosidase, and the mother of these cases was found to have less than half the expected activity of this enzyme in blood leucocytes. This condition is presented as a potential animal model of human alpha-L-fucosidase.
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PMID:Canine alpha-L-fucosidosis: a storage disease of Springer Spaniels. 688 Jun 26