Candelo, Estephania <br/><br/>
Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia.  [electronic resource] 

 -  Intractable & rare diseases research  Aug 2019 
 - 187-193 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>2186-3644 
<br/><br/><label>Standard No.: </label>10.5582/irdr.2019.01014  doi