Tyrosine hydroxylase deficiency: A treatable disorder of brain catecholamine biosynthesis

Brain

Volumn 133, Issue 6, 2010, Pages 1810-1822

  Willemsen, Michl A ^a   Verbeek, Marcel M ^a   Kamsteeg, Erik Jan ^a   De Rijk Van Andel, Johanneke F ^b   Aeby, Alec ^c   Blau, Nenad ^d   Burlina, Alberto ^e   Donati, Maria A ^f   Geurtz, Ben ^a   Grattan Smith, Padraic J ^g   Haeussler, Martin ^h   Hoffmann, Georg F ⁱ   Jung, Hans ^j   De Klerk, Johannis B ^k   Van Der Knaap, Marjo S ^l   Kok, Fernando ^m   Leuzzi, Vincenzo ⁿ   De Lonlay, Pascale ^o   Megarbane, Andre ^p   Monaghan, Hugh ^q   Renier, Willy O ^r   Rondot, Pierre ^s   Ryan, Monique M ^t   Seeger, Jürgen ^u   Smeitink, Jan A ^a   Steenbergen Spanjers, Gerry C ^a   Wassmer, Evangeline ^v   Weschke, Bernhard ^w   Wijburg, Frits A ^x   Wilcken, Bridget ^y   Zafeiriou, Dimitrios I ^z   Wevers, Ron A ^a   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b AMPHIA HOSPITAL   (Netherlands)

^c ERASME HOSPITAL   (Belgium)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^e UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^f UNIVERSITY OF FLORENCE   (Italy)

^g SYDNEY CHILDREN'S HOSPITAL   (Australia)

^h UNIVERSITY OF WÜRZBURG   (Germany)

ⁱ UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^j UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^k SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^l VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^m UNIVERSITY OF SÃO PAULO   (Brazil)

ⁿ SAPIENZA UNIVERSITY OF ROME   (Italy)

^o UNIVERSITÉ PARIS DESCARTES   (France)

^p SAINT JOSEPH UNIVERSITY   (Lebanon)

^q OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^r CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^s BICÊTRE HOSPITAL   (France)

^t UNIVERSITY OF MELBOURNE   (Australia)

^u DEUTSCHE KLINIK FÜR DIAGNOSTIK   (Germany)

^v BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^w CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^x ACADEMIC MEDICAL CENTER   (Netherlands)

^y CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^z ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

more..

Author keywords

Cerebrospinal fluid; Dystonia; L dopa; Neurotransmitters; Tyrosine hydroxylase

Indexed keywords

4 HYDROXY 3 METHOXYPHENYLETHYLENE GLYCOL; 5 HYDROXYINDOLEACETIC ACID; BENSERAZIDE; BROMOCRIPTINE; CARBIDOPA; CATECHOLAMINE; HOMOVANILLIC ACID; LEVODOPA; PRAMIPEXOLE; SELEGILINE; TYROSINE 3 MONOOXYGENASE;

ARTICLE; BRAIN DISEASE; CATECHOLAMINE BRAIN LEVEL; CATECHOLAMINE SYNTHESIS; CEREBROSPINAL FLUID ANALYSIS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG DOSE REDUCTION; DRUG DOSE REGIMEN; DRUG HYPERSENSITIVITY; DRUG TOLERABILITY; DYSTONIA; ENZYME DEFICIENCY; EXTRAPYRAMIDAL SYNDROME; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOKINESIA; INFANT; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGRESSIVE EXTRAPYRAMIDAL MOVEMENT DISORDER; PROGRESSIVE EXTRAPYRAMIDAL MOVEMENT SYNDROME; PROMOTER REGION; TREATMENT RESPONSE; TYROSINE HYDROXYLASE DEFICIENCY;

AGE OF ONSET; AMINO ACID METABOLISM, INBORN ERRORS; BRAIN; BRAIN DISEASES; CATECHOLAMINES; CHILD, PRESCHOOL; DISEASE PROGRESSION; DOPAMINE AGENTS; HOMOVANILLIC ACID; HUMANS; HYDROXYINDOLEACETIC ACID; HYPOKINESIA; INFANT; LEVODOPA; MUSCLE RIGIDITY; MUTATION, MISSENSE; PHENOTYPE; PROMOTER REGIONS, GENETIC; SEVERITY OF ILLNESS INDEX; TYROSINE 3-MONOOXYGENASE;

EID: 77952995720     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awq087     Document Type: Article

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