| Literature DB >> 6108718 |
J J Weiter, M Feingold, E H Kolodny, S S Raghaven.
Abstract
A family exhibiting a leukocytic arylsulfatase A deficiency, probably inherited in an autosomal recessive manner, differed from patients with typical metachromatic leukodystrophy in that sulfatiduria was absent and there was readily detectable cerebroside sulfatase activity. To our knowledge, this family was unique in that there were no known members with metachromatic leukodystrophy and the only neurologic abnormality was progressive retinal pigment degeneration in the proband.Entities:
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Year: 1980 PMID： 6108718 DOI： 10.1016/s0002-9394(14)75191-8
Source DB: PubMed Journal: Am J Ophthalmol ISSN： 0002-9394 Impact factor: 5.258