García-Silva, M T <br/><br/>
Congenital disorder of glycosylation (CDG) type Ie. A new patient.  [electronic resource] 

 -  Journal of inherited metabolic disease  2004 
 - 591-600 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0141-8955 
<br/><br/><label>Standard No.: </label>10.1023/b:boli.0000042984.42433.d8  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Brain--pathology<br/>Carbohydrate Metabolism, Inborn Errors--classification<br/>Child<br/>Developmental Disabilities--genetics<br/>Exons<br/>Facies<br/>Female<br/>Fibroblasts--metabolism<br/>Gene Deletion<br/>Heterozygote<br/>Homozygote<br/>Humans<br/>Lipopolysaccharides--analysis<br/>Magnetic Resonance Imaging<br/>Male<br/>Mannosyltransferases--deficiency<br/>Microcephaly--genetics<br/>Mutation<br/>Optic Atrophy--genetics<br/>Tomography, X-Ray Computed