A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)

Journal of Inherited Metabolic Disease

Volumn 22, Issue 4, 1999, Pages 364-373

  Wevers, R A ^a   De Rijk van Andel, J F ^b   Brautigam C ^b   Geurtz, B ^b   Van Den Heuvel, L P W J ^b   Steenbergen Spanjers, G C H ^b   Smeitink, J A M ^b   Hoffmann, G F ^b   Gabreels F J M ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

4 HYDROXY 3 METHOXYPHENYLETHYLENE GLYCOL; 5 HYDROXYINDOLEACETIC ACID; CARBIDOPA; CATECHOLAMINE DERIVATIVE; HOMOVANILLIC ACID; LEVODOPA; MESSENGER RNA; PTERIN; TYROSINE; TYROSINE 3 MONOOXYGENASE; VANILMANDELIC ACID;

AMINO ACID SEQUENCE; CEREBROSPINAL FLUID ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONFERENCE PAPER; ENZYME DEFICIENCY; EXON; EXTRAPYRAMIDAL SYMPTOM; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; HYPERKINESIA; HYPOKINESIA; LUMBAR PUNCTURE; MALE; METABOLIC DISORDER; METABOLISM; METABOLITE; MOLECULAR GENETICS; NETHERLANDS; NEUROTRANSMISSION; NOMENCLATURE; POINT MUTATION; PRESCHOOL CHILD; REFERENCE VALUE; SIDE EFFECT; SINGLE STRAND CONFORMATION POLYMORPHISM; STATISTICAL ANALYSIS; URINALYSIS; ZYGOSITY;

AMINO ACID METABOLISM, INBORN ERRORS; HUMANS; MUTATION; TYROSINE 3-MONOOXYGENASE;

EID: 0344435235     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005539803576     Document Type: Conference Paper

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