Benke, Paul J <br/><br/>
Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.  [electronic resource] 

 -  Journal of child neurology  05 2017 
 - 543-549 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1708-8283 
<br/><br/><label>Standard No.: </label>10.1177/0883073817690094  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnostic imaging<br/>Adolescent<br/>Brain Diseases--diagnostic imaging<br/>Carbohydrate Metabolism, Inborn Errors--complications<br/>Child, Preschool<br/>Family Health<br/>Female<br/>Fetal Growth Retardation--diagnostic imaging<br/>Humans<br/>Ichthyosis--diagnostic imaging<br/>Infant<br/>Limb Deformities, Congenital--diagnostic imaging<br/>Male<br/>Microcephaly--complications<br/>Mutation--genetics<br/>Phenotype<br/>Phosphoglycerate Dehydrogenase--deficiency<br/>Psychomotor Disorders--complications<br/>Seizures--complications<br/>Serine--biosynthesis<br/>Young Adult