The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Puusepp, H ^a,b   Kall, K ^c   Salomons, G S ^d   Talvik, I ^a,e   Mannamaa M ^e   Rein, R ^e   Jakobs, C ^d   Ounap K ^a,f  

^a UNIVERSITY OF TARTU   (Estonia)

^b Inst of Molecular and Cell Biology   (Estonia)

^c Central Laboratory of Communicable Disease of Health Protection Inspectorate   (Estonia)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e TARTU UNIVERSITY HOSPITAL   (Estonia)

^f TARTU UNIVERSITY HOSPITAL   (Estonia)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CREATINE; CREATININE; NERVE PROTEIN; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORTER; SLC6A8 PROTEIN, HUMAN;

ADOLESCENT; ADULT; BRAIN DISEASES, METABOLIC, INBORN; CASE REPORT; CHILD; DEFICIENCY; DNA MUTATIONAL ANALYSIS; ESTONIA; FEMALE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HEREDITY; HETEROZYGOTE; HUMAN; INTELLIGENCE; MALE; MENTAL RETARDATION, X-LINKED; MENTALLY DISABLED PERSON; MIDDLE AGED; MISSENSE MUTATION; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE; PREVALENCE; PROCEDURES; PSYCHOLOGY; SEVERITY OF ILLNESS INDEX; URINE; YOUNG ADULT; ARTICLE; MENTAL PATIENT; METABOLIC ENCEPHALOPATHY; METHODOLOGY; NUCLEOTIDE SEQUENCE; PSYCHOLOGICAL ASPECT; X LINKED MENTAL RETARDATION;

ADOLESCENT; ADULT; BIOMARKERS; BRAIN DISEASES, METABOLIC, INBORN; CHILD; CREATINE; CREATININE; DNA MUTATIONAL ANALYSIS; ESTONIA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEREDITY; HETEROZYGOTE; HUMANS; INTELLIGENCE; MALE; MENTAL RETARDATION, X-LINKED; MENTALLY DISABLED PERSONS; MIDDLE AGED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; PREDICTIVE VALUE OF TESTS; PREVALENCE; SEVERITY OF ILLNESS INDEX; YOUNG ADULT; BIOLOGICAL MARKERS;

EID: 84897956170     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-1063-y     Document Type: Article

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