A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy

Journal of Child Neurology

Volumn 27, Issue 4, 2012, Pages 523-525

  Giovanniello, Teresa ^a   Claps, Dianella ^b   Carducci, Carla ^a   Carducci, Claudia ^a   Blau, Nenad ^c,d   Vigevano, Federico ^b   Antonozzi, Italo ^a   Leuzzi, Vincenzo ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

autosomal recessive dopa responsive dystonia; biogenic amine disorders; early onset encephalopathy; tyrosine hydroxylase deficiency

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; CARBIDOPA PLUS LEVODOPA; HOMOVANILLIC ACID; PROLACTIN; PYRIDOXINE; SELEGILINE; TYROSINE 3 MONOOXYGENASE;

AMINO ACID SUBSTITUTION; ARTICLE; BIOINFORMATICS; BRAIN DISEASE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CEREBROSPINAL FLUID LEVEL; CHILD; DISEASE ASSOCIATION; DISEASE SEVERITY; EARLY ONSET SEVERE ENCEPHALOPATHY; ELECTROENCEPHALOGRAPHY; ENZYME DEFICIENCY; FATHER; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; GROWTH RETARDATION; HUMAN; HYPOKINESIA; INTELLECTUAL IMPAIRMENT; LIMB MOVEMENT; LIMB RIGIDITY; MALE; MISSENSE MUTATION; MOTHER; MULTIPLE CYCLE TREATMENT; MUSCLE HYPOTONIA; MUSCLE RIGIDITY; NUCLEAR MAGNETIC RESONANCE IMAGING; PAROXYSMAL DYSTONIA; PATHOGENESIS; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROLACTIN BLOOD LEVEL; PROTON NUCLEAR MAGNETIC RESONANCE; PSYCHOMOTOR DEVELOPMENT; TREMOR; TRUNK HYPOTONIA; TYROSINE 3 MONOOXYGENASE DEFICIENCY; VERTICAL TRANSMISSION;

CHILD, PRESCHOOL; DYSTONIA; GENETIC TESTING; HOMOVANILLIC ACID; HUMANS; MALE; MUTATION, MISSENSE; PROLACTIN; PSYCHOMOTOR DISORDERS; TYROSINE 3-MONOOXYGENASE;

EID: 84859360032     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811420717     Document Type: Article

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