Pérez, Belén <br/><br/>
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.  [electronic resource] 

 -  Journal of inherited metabolic disease  May 2013 
 - 535-42 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1573-2665 
<br/><br/><label>Standard No.: </label>10.1007/s10545-012-9525-7  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Carbohydrate Metabolism--genetics<br/>Carbohydrate Sequence<br/>Central Nervous System--metabolism<br/>Congenital Disorders of Glycosylation--classification<br/>DNA Mutational Analysis<br/>Humans<br/>Male<br/>Molecular Sequence Data<br/>Mutation, Missense--physiology<br/>Phosphoglucomutase--genetics<br/>Polymorphism, Single Nucleotide--physiology