Myers, Kenneth A <br/><br/>
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.  [electronic resource] 

 -  American journal of medical genetics. Part A  01 2018 
 - 230-234 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.38549  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Brain--pathology<br/>Child<br/>Electroencephalography<br/>Enzyme Activation<br/>Enzyme Assays<br/>Female<br/>Gangliosidosis, GM1--diagnosis<br/>Genetic Association Studies<br/>Genotype<br/>Humans<br/>Mosaicism<br/>Neuroimaging<br/>Phenotype<br/>Schwann Cells--metabolism<br/>Skin--pathology<br/>Uniparental Disomy<br/>Exome Sequencing<br/>beta-Galactosidase--genetics