Mihaylova, Violeta <br/><br/>
Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.  [electronic resource] 

 -  Brain : a journal of neurology  Apr 2007 
 - 1050-61 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2156 
<br/><br/><label>Standard No.: </label>10.1093/brain/awm026  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Age of Onset<br/>Base Sequence<br/>Central Nervous System Diseases--complications<br/>Child<br/>Child, Preschool<br/>Cognition Disorders--complications<br/>Electroencephalography--methods<br/>Family Health<br/>Female<br/>Fluorescein Angiography--methods<br/>Genotype<br/>Humans<br/>Infant<br/>Macula Lutea--pathology<br/>Male<br/>Mental Disorders--complications<br/>Mutation<br/>Niemann-Pick Diseases--complications<br/>Peripheral Nervous System Diseases--complications<br/>Phenotype<br/>Sphingomyelin Phosphodiesterase--deficiency