6-Pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

Annals of Neurology

Volumn 58, Issue 1, 2005, Pages 164-167

  Demos, Michelle K ^a,e   Waters, Paula J ^b   Vallance, Hilary D ^b   Lillquist, Yolanda ^a   Makhseed, Nawal ^a,b   Hyland, Keith ^c   Blau, Nenad ^d   Connolly, Mary B ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c Horizon Molecular Medicine   (United States)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^e CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; 5 HYDROXYTRYPTOPHAN; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; BIOPTERIN; CARBIDOPA PLUS LEVODOPA; HOMOVANILLIC ACID; LAMOTRIGINE; NEOPTERIN; PHENYLALANINE; PTERIN DERIVATIVE; TETRAHYDROBIOPTERIN;

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY; AMINO ACID ANALYSIS; ANION EXCHANGE CHROMATOGRAPHY; ARTICLE; CASE REPORT; CEREBRAL PALSY; DEVELOPMENTAL DISORDER; DYSTONIA; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; FEMALE; HUMAN; HYPERPHENYLALANINEMIA; INTELLECTUAL IMPAIRMENT; NEUROLOGIC EXAMINATION; PHENYLKETONURIA; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; URINE LEVEL;

5-HYDROXYTRYPTOPHAN; BIOPTERIN; CARBIDOPA; CEREBRAL PALSY; CHILD; DEVELOPMENTAL DISABILITIES; DIAGNOSTIC ERRORS; DOPAMINE AGENTS; FEMALE; HUMANS; LEVODOPA; MOVEMENT DISORDERS; PHENYLALANINE; PHENYLKETONURIAS; PHOSPHORUS-OXYGEN LYASES; SEIZURES;

EID: 21844451119     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20532     Document Type: Article

References (11)

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