Gómez-Garre, P <br/><br/>
Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora.  [electronic resource] 

 -  Neurology  Apr 2007 
 - 1369-73 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1526-632X 
<br/><br/><label>Standard No.: </label>10.1212/01.wnl.0000260061.37559.67  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>1,4-alpha-Glucan Branching Enzyme--genetics<br/>Biopsy<br/>Brain--pathology<br/>Carrier Proteins--genetics<br/>Child<br/>Codon, Nonsense<br/>Diagnosis, Differential<br/>Disease Progression<br/>Dwarfism--etiology<br/>Electroencephalography<br/>Exons--genetics<br/>Glycogen Storage Disease Type IV--diagnosis<br/>Humans<br/>Infant<br/>Lafora Disease--complications<br/>Liver--pathology<br/>Liver Cirrhosis--etiology<br/>Liver Failure--etiology<br/>Liver Transplantation<br/>Magnetic Resonance Imaging<br/>Male<br/>Microsatellite Repeats<br/>Mutation, Missense<br/>Pedigree<br/>Periodic Acid-Schiff Reaction<br/>Phenotype<br/>Point Mutation<br/>Polymorphism, Single-Stranded Conformational<br/>Protein Tyrosine Phosphatases--genetics<br/>Protein Tyrosine Phosphatases, Non-Receptor<br/>Skin--pathology<br/>Spain<br/>Ubiquitin-Protein Ligases