Puusepp, H <br/><br/>
The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.  [electronic resource] 

 -  Journal of inherited metabolic disease  Dec 2010 
 - S5-11 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1573-2665 
<br/><br/><label>Standard No.: </label>10.1007/s10545-008-1063-y  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Biomarkers--urine<br/>Brain Diseases, Metabolic, Inborn--diagnosis<br/>Child<br/>Creatine--deficiency<br/>Creatinine--urine<br/>DNA Mutational Analysis<br/>Estonia--epidemiology<br/>Female<br/>Genetic Predisposition to Disease<br/>Genetic Testing--methods<br/>Heredity<br/>Heterozygote<br/>Humans<br/>Intelligence--genetics<br/>Male<br/>X-Linked Intellectual Disability--diagnosis<br/>Middle Aged<br/>Mutation, Missense<br/>Nerve Tissue Proteins--deficiency<br/>Pedigree<br/>Persons with Intellectual Disabilities<br/>Phenotype<br/>Plasma Membrane Neurotransmitter Transport Proteins--deficiency<br/>Predictive Value of Tests<br/>Prevalence<br/>Severity of Illness Index<br/>Young Adult