Vals, Mari-Anne <br/><br/>
Three families with mild PMM2-CDG and normal cognitive development.  [electronic resource] 

 -  American journal of medical genetics. Part A  Jun 2017 
 - 1620-1624 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.38235  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Cerebellum--abnormalities<br/>Child<br/>Child, Preschool<br/>Cognition--physiology<br/>Congenital Disorders of Glycosylation--diagnostic imaging<br/>Developmental Disabilities--diagnostic imaging<br/>Female<br/>Genotype<br/>Humans<br/>Magnetic Resonance Imaging<br/>Male<br/>Mutation<br/>Nervous System Malformations--diagnostic imaging<br/>Phenotype<br/>Phosphotransferases (Phosphomutases)--genetics