Phenylalanine loading as a diagnostic test for DRD: Interpreting the utility of the test

Molecular Genetics and Metabolism

Volumn 83, Issue 3, 2004, Pages 207-212

  Saunders Pullman, R ^a,b   Blau, N ^c   Hyland, K ^d,e   Zschocke, J ^f   Nygaard, T ^g,h   Raymond, D ^a   Shanker, V ^b   Mohrmann, K ^j   Arnold, L ^d   Tabbal, S ^k   Deleon, D ^a   Ford, B ^k   Brin, M ⁱ   Chouinard, S ^k   Ozelius, L ^b   Klein, C ^j   Bressman, S B ^a,b  

^a BETH ISRAEL MEDICAL CENTER   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

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

^f UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^g VETERANS AFFAIRS MEDICAL CENTER   (United States)

^h RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

ⁱ Luebeck Germany ^*  (United States)

^j MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^k UNIVERSITY OF LÜBECK   (Germany)

more..

Author keywords

Dopa responsive dystonia; Dystonia diagnosis; GTPCH 1 mutations; Phenylalanine loading

Indexed keywords

DOPAMINE; LEVODOPA; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TYROSINE;

ADOLESCENT; ADULT; AGED; AMINO ACID BLOOD LEVEL; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST; DNA ISOLATION; DYSTONIA; FEMALE; GENE AMPLIFICATION; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DYSTONIC DISORDERS; EVALUATION STUDIES; FEMALE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; SEQUENCE ANALYSIS, DNA; TIME FACTORS; TYROSINE;

EID: 8144220153     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.07.010     Document Type: Article

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