Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of DOPA-responsive dystonia and sepiapterin reductase deficiency

Molecular Genetics and Metabolism

Volumn 74, Issue 1-2, 2001, Pages 172-185

  Blau, Nenad ^a   Bonafé, Luisa ^a   Thöny, Beat ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; ALDEHYDE REDUCTASE; BIOPTERIN; CARBONYL REDUCTASE; CYTOKINE; DIHYDROBIOPTERIN; DIHYDROFOLATE REDUCTASE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; HOMOVANILLIC ACID; LEVODOPA; NEOPTERIN; NEUROTRANSMITTER; NITRIC OXIDE SYNTHASE; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; SEPIAPTERIN REDUCTASE; TETRAHYDROBIOPTERIN; TRYPTOPHAN HYDROXYLASE; TYROSINE; TYROSINE 3 MONOOXYGENASE;

CLINICAL FEATURE; DYSTONIA; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPERPHENYLALANINEMIA; NONHUMAN; PRIORITY JOURNAL; SHORT SURVEY; SYMPTOMATOLOGY;

EID: 0034788778     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3213     Document Type: Article

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