Literature DB >> 3974801

Ophthalmoplegic neurolipidosis--storage cells in heterocygotes.

U Frank, U Lasson.   

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.

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Year:  1985        PMID： 3974801     DOI： 10.1055/s-2008-1052535

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


  3 in total

1.  Metabolic abnormalities in feline Niemann-Pick type C heterozygotes.

Authors:  D E Brown; M A Thrall; S U Walkley; S Wurzelmann; D A Wenger; R W Allison; C A Just
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  Niemann-pick disease type C: new aspects in a long published family - partial manifestations in heterozygotes.

Authors:  Klaus Harzer; Stefanie Beck-Wödl; Peter Bauer
Journal:  JIMD Rep       Date:  2013-07-03

3.  The influence of low arylsulfatase A activity on neuropsychiatric morbidity: a large-scale screening in patients.

Authors:  P Propping; W Friedl; M Huschka; K H Schlör; F Reimer; M Lee-Vaupel; E Conzelmann; K Sandhoff
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132
  3 in total

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