Hereditary neurovisceral mannosidosis associated withα-mannosidase deficiency in a family of Persian cats View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1982-03

AUTHORS

M. Vandevelde, R. Fankhauser, P. Bichsel, U. Wiesmann, N. Herschkowitz

ABSTRACT

Several kittens in a family of Persian cats had a metabolic storage disease. Clinically the disorder was characterized by hepatomegaly, neurological signs and early death. The microscopic lesions consisted of widespread vacuolation of neurons and glial cells in the central nervous system and in liver cells. Electronmicroscopically the lesions consisted of intracytoplasmic accumulation of membrane-bound "empty" vacuoles. In addition to the storage disease, poor myelination of the cerebral white matter was found. The defect was reproduced in breeding trials. On biochemical analysis of brain tissue, deficient function of the enzyme alpha-mannosidase was detected. The clinical and pathological features of mannosidosis in Persian cats were compared to similar defects in other species. More... »

PAGES

64-68

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00692699

DOI

http://dx.doi.org/10.1007/bf00692699

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1030709703

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7136518


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