Heussinger, Nicole <br/><br/>
Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.  [electronic resource] 

 -  Pediatric neurology  02 2017 
 - 45-52 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1873-5150 
<br/><br/><label>Standard No.: </label>10.1016/j.pediatrneurol.2016.10.007  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Atrophy--blood<br/>Brain Diseases, Metabolic, Inborn--blood<br/>Child<br/>Creatine--blood<br/>Female<br/>Genotype<br/>Humans<br/>Intellectual Disability--blood<br/>Male<br/>X-Linked Intellectual Disability--blood<br/>Middle Aged<br/>Mutation, Missense<br/>Nerve Tissue Proteins--genetics<br/>Phenotype<br/>Plasma Membrane Neurotransmitter Transport Proteins--blood<br/>White Matter--diagnostic imaging