Dystonia with motor delay in compound heterozygotes for GTP- cyclohydrolase I gene mutations

Annals of Neurology

Volumn 44, Issue 1, 1998, Pages 10-16

  Furukawa, Yoshiaki ^a   Kish, Stephen J ^a   Bebin, E Martina ^b   Jacobson, Richard D ^c   Fryburg, Julie S ^d   Wilson, William G ^d   Shimadzu, Mitsunobu ^e   Hyland, Keith ^f   Trugman, Joel M ^d  

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b University of Alabama at Birmingham   (United States)

^c MEDICAL COLLEGE OF WISCONSIN   (United States)

^d UNIVERSITY OF VIRGINIA   (United States)

^e LSI MEDIENCE CORPORATION   (Japan)

^f UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; HOMOVANILLIC ACID; LEVODOPA; NEOPTERIN; TETRAHYDROBIOPTERIN;

ADOLESCENT; AMINO ACID ANALYSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; DISEASE CLASSIFICATION; DNA SEQUENCE; DYSTONIA; EXON; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ANTIOXIDANTS; BIOPTERIN; CHILD; DNA; DRUG THERAPY, COMBINATION; DYSTONIA; FEMALE; FRAMESHIFT MUTATION; HUMANS; LEVODOPA; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION;

EID: 0031926568     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410440107     Document Type: Article

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