Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

Molecular Genetics and Metabolism

Volumn 114, Issue 1, 2015, Pages 34-40

  Ortez, C ^a   Duarte, S T ^f,g   Ormazabal A ^a   Serrano, M ^a   Perez A ^a   Pons, R ^b   Pineda, M ^a   Yapici, Z ^c   Fernandez Alvarez E ^a   Domingo Jimenez R ^d   De Castro, P ^e   Artuch, R ^a   Garcia Cazorla A ^a  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

^b UNIVERSITY OF ATHENS   (Greece)

^c ISTANBUL UNIVERSITY   (Turkey)

^d HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^e HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^f INSTITUTO DE MEDICINA MOLECULAR   (Portugal)

^g HOSPITAL DONA ESTEFÂNIA   (Portugal)

Author keywords

Cerebrospinal fluid; Dopaminergic receptor type 2; Infantile parkinsonism; Synaptic proteins; Tyrosine hydroxylase deficiency

Indexed keywords

4 AMINOBUTYRIC ACID; BIOLOGICAL MARKER; DOPAMINE 2 RECEPTOR; DOPAMINE TRANSPORTER; LEVODOPA; TYROSINE 3 MONOOXYGENASE; VESICULAR MONOAMINE TRANSPORTER; VESICULAR MONOAMINE TRANSPORTER 2; DRD2 PROTEIN, HUMAN; SLC18A2 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CEREBROSPINAL FLUID; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; GABAERGIC TRANSMISSION; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; MOLECULAR WEIGHT; OPTICAL DENSITY; PRESCHOOL CHILD; TYROSINE HYDROXYLASE DEFICIENCY; UPREGULATION; WESTERN BLOTTING; YOUNG ADULT; DEFICIENCY; DYSTONIC DISORDERS; GENE EXPRESSION; METABOLISM; NEWBORN; PHENOTYPE;

ADOLESCENT; ADULT; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; DOPAMINE PLASMA MEMBRANE TRANSPORT PROTEINS; DYSTONIC DISORDERS; FEMALE; GENE EXPRESSION; HUMANS; INFANT, NEWBORN; LEVODOPA; MALE; PHENOTYPE; RECEPTORS, DOPAMINE D2; TYROSINE 3-MONOOXYGENASE; VESICULAR MONOAMINE TRANSPORT PROTEINS; YOUNG ADULT;

EID: 84920369729     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.10.014     Document Type: Article

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