TY  - GEN
AU  - Puusepp,H
AU  - Kall,K
AU  - Salomons,G S
AU  - Talvik,I
AU  - Männamaa,M
AU  - Rein,R
AU  - Jakobs,C
AU  - Õunap,K
TI  - The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation
SN  - 1573-2665
PY  - 2014///0408
KW  - Adolescent
KW  - Adult
KW  - Biomarkers
KW  - urine
KW  - Brain Diseases, Metabolic, Inborn
KW  - diagnosis
KW  - Child
KW  - Creatine
KW  - deficiency
KW  - Creatinine
KW  - DNA Mutational Analysis
KW  - Estonia
KW  - epidemiology
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Genetic Testing
KW  - methods
KW  - Heredity
KW  - Heterozygote
KW  - Humans
KW  - Intelligence
KW  - genetics
KW  - Male
KW  - X-Linked Intellectual Disability
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Nerve Tissue Proteins
KW  - Pedigree
KW  - Persons with Intellectual Disabilities
KW  - Phenotype
KW  - Plasma Membrane Neurotransmitter Transport Proteins
KW  - Predictive Value of Tests
KW  - Prevalence
KW  - Severity of Illness Index
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10545-008-1063-y
ER  -