Hedberg-Oldfors, Carola <br/><br/>
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.  [electronic resource] 

 -  Journal of inherited metabolic disease  01 2017 
 - 139-149 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1573-2665 
<br/><br/><label>Standard No.: </label>10.1007/s10545-016-9978-1  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Biopsy<br/>Cardiomyopathies--genetics<br/>Glucans--genetics<br/>Glucosyltransferases--deficiency<br/>Glycogen--genetics<br/>Glycogen Storage Disease--genetics<br/>Glycoproteins--deficiency<br/>Homozygote<br/>Humans<br/>Male<br/>Middle Aged<br/>Muscle, Skeletal--metabolism<br/>Mutation, Missense--genetics