Ophthalmoplegic neurolipidosis--storage cells in heterocygotes.
作者信息
Frank U, Lasson U
出版信息
Neuropediatrics. 1985 Feb;16(1):3-6. doi: 10.1055/s-2008-1052535.
PMID:3974801
Abstract
We describe two children with ophthalmoplegic neurolipidosis. Bone marrow specimens of the patients and their healthy relatives disclose typical storage cells. The literature is reviewed. The storage cells in healthy relatives are interpreted as a sign of heterocygosity.
摘要
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