Subscribe to RSS
Please copy the URL and add it into your RSS Feed Reader.
https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00000041.xml
Neuropediatrics 1985; 16(1): 3-5
DOI: 10.1055/s-2008-1052535
DOI: 10.1055/s-2008-1052535
ORIGINAL ARTICLES
© Georg Thieme Verlag KG Stuttgart · New York
Ophthalmoplegic Neurolipidosis - Storage Cells in Heterocygotes
Further Information
Publication History
Publication Date:
30 April 2008 (online)
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.
Key words
Neurolipidosis - Storage disease - Heterocygotes