Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency

Clinical Chemistry

Volumn 45, Issue 12, 1999, Pages 2073-2078

  Bräutigam, Christa ^a   Steenbergen Spanjers, Gerry C H ^c   Hoffmann, Georg F ^a   Dionisi Vici, Carlo ^b   Van Den Heuvel, Lambert P W J ^c   Smeitink, Jan A M ^c   Wevers, Ron A ^c  

^a UNIVERSITY HOSPITAL MARBURG   (Germany)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

TYROSINE 3 MONOOXYGENASE;

ARTICLE; CASE REPORT; CHILD; ELECTROCHEMICAL ANALYSIS; ENZYME DEFICIENCY; FLUOROMETRY; GENE AMPLIFICATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0032710990     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/45.12.2073     Document Type: Article

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