Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation

Movement Disorders

Volumn 25, Issue 8, 2010, Pages 1086-1090

  Pons, Roser ^a   Serrano, Mercedes ^b   Ormazabal, Aida ^b   Toma, Claudio ^c   Garcia Cazorla, Angels ^b   Area, Estela ^d   Ribasés, Marta ^e   Kanavakis, Emmanuel ^a   Drakaki, Kaliopi ^a   Giannakopoulos, Aristotelis ^a   Orfanou, Irene ^a   Youroukos, Sotiris ^a   Cormand, Bru ^c   Artuch, Rafael ^b  

^a UNIVERSITY OF ATHENS   (Greece)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

^d Och Spine at New York Presbyterian Hospitals   (United States)

^e HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

Autonomic dysfunction; Founder effect; Infantile parkinsonism; Oculogyric crisis; Tyrosine hydroxylase

Indexed keywords

LEVODOPA; PTERIN; 3-O-METHYL-DOPA; 4 HYDROXY 3 METHOXYPHENYLETHYLENE GLYCOL; 5 HYDROXYINDOLEACETIC ACID; DOPA; HOMOVANILLIC ACID; LEUCINE; PROLINAL; PROLINE; TYROSINE 3 MONOOXYGENASE;

ARTICLE; AUTONOMIC DYSFUNCTION; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CLINICAL FEATURE; DOPAMINE METABOLISM; DRUG DOSE INCREASE; DRUG DOSE TITRATION; DYSKINESIA; GENE MUTATION; GREECE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; METABOLIC DISORDER; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OCULOGYRIC CRISIS; PARKINSON DISEASE; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE; TYROSINE HYDROXYLASE DEFICIENCY; ANALOGS AND DERIVATIVES; CEREBROSPINAL FLUID; DEFICIENCY; ETHNOLOGY; GENETICS; METABOLISM; MUTATION; PRESCHOOL CHILD; PROCEDURES; YOUNG ADULT;

CHILD, PRESCHOOL; DIHYDROXYPHENYLALANINE; DNA MUTATIONAL ANALYSIS; GREECE; HOMOVANILLIC ACID; HUMANS; HYDROXYINDOLEACETIC ACID; LEUCINE; METABOLIC DISEASES; METHOXYHYDROXYPHENYLGLYCOL; MUTATION; PROLINE; TYROSINE 3-MONOOXYGENASE; YOUNG ADULT;

EID: 77953529049     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23002     Document Type: Article

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