Schiff, Manuel <br/><br/>
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.  [electronic resource] 

 -  Journal of medical genetics  12 2017 
 - 843-851 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Review; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2017-104903  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Alleles<br/>Amino Acid Substitution<br/>Child<br/>Child, Preschool<br/>Congenital Disorders of Glycosylation--diagnosis<br/>Female<br/>Follow-Up Studies<br/>Genetic Association Studies<br/>Humans<br/>Infant<br/>Male<br/>Mutation<br/>Phenotype<br/>Phosphotransferases (Phosphomutases)--genetics