Rimella-Le-Huu, A <br/><br/>
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.  [electronic resource] 

 -  Journal of inherited metabolic disease  Dec 2008 
 - S381-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1573-2665 
<br/><br/><label>Standard No.: </label>10.1007/s10545-008-0959-x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Biomarkers--blood<br/>Brain--enzymology<br/>Child Development<br/>Child, Preschool<br/>Congenital Disorders of Glycosylation--complications<br/>Genotype<br/>Humans<br/>Infant<br/>Magnetic Resonance Imaging<br/>Male<br/>Mannosyltransferases--genetics<br/>Mutation, Missense<br/>Neurologic Examination<br/>Phenotype<br/>Transferrin--analysis