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Volumn 60, Issue 4, 2003, Pages 700-702

The phenylalanine loading test in the differential diagnosis of dystonia

Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE; PHENYLALANINE; TYROSINE;

EID: 0037465535     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000048205.18445.98     Document Type: Article
Times cited : (34)

References (10)
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  • 2
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    • Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
    • Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994;8:236-242.
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    • Dopa-responsive dystonia in British patients: New mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity
    • Bandmann O, Nygaard TG, Surtees R, et al. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 1996;5:403-406.
    • (1996) Hum Mol Genet , vol.5 , pp. 403-406
    • Bandmann, O.1    Nygaard, T.G.2    Surtees, R.3
  • 4
    • 0342369398 scopus 로고    scopus 로고
    • Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
    • Tassin J, Durr A, Bonnet AM, et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Brain 2000;123:1112-1121.
    • (2000) Brain , vol.123 , pp. 1112-1121
    • Tassin, J.1    Durr, A.2    Bonnet, A.M.3
  • 5
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    • A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
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    • (1995) Hum Genet , vol.95 , pp. 123-125
    • Luedecke, B.1    Worniczak, B.2    Bartholome, K.3
  • 6
    • 0018170113 scopus 로고
    • Hyperphenylalaninemia due to a deficiency of biopterin
    • Kaufman S, Berlow S, Summer GK, et al. Hyperphenylalaninemia due to a deficiency of biopterin. N Engl J Med 1978;299:673-679.
    • (1978) N Engl J Med , vol.299 , pp. 673-679
    • Kaufman, S.1    Berlow, S.2    Summer, G.K.3
  • 7
    • 0030898773 scopus 로고    scopus 로고
    • Oral phenylalanine loading in dopa-responsive dystonia: A possible diagnostic test
    • Hyland K, Fryburg JS, Wilson WG, et al. Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. Neurology 1997;48:1290-1297.
    • (1997) Neurology , vol.48 , pp. 1290-1297
    • Hyland, K.1    Fryburg, J.S.2    Wilson, W.G.3
  • 8
    • 16944366666 scopus 로고    scopus 로고
    • The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
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    • (1997) Nat Genet , vol.17 , pp. 40-48
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  • 9
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    • Amino acid analysis by high performance liquid chromatography and precolumn derivatisation
    • Tschesche H, ed. Berlin: de Gruyter
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  • 10
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    • Phenylalanine loading in the diagnosis of dopa-responsive dystonia: The necessity for measuring biopterin
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.