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Volumn 33, Issue 6, 2010, Pages 697-703

Phenylalanine loading in pediatric patients with dopa-responsive dystonia: Revised test protocol and pediatric cutoff values

Author keywords

[No Author keywords available]

Indexed keywords

BIOPTERIN; DOPAMINE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; PHENYLALANINE; TYROSINE;

EID: 79952612221     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9164-9     Document Type: Article
Times cited : (18)

References (15)
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    • Segawa, M.1    Nomura, Y.2    Nishiyama, N.3
  • 2
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    • Tetrahydrobiopterin biosynthesis, regeneration and functions
    • Thöny B, Auerbach G, Blau N (2000) Tetrahydrobiopterin biosynthesis, regeneration and functions. Biochem J 347(Pt 1):1-16
    • (2000) Biochem J , vol.347 , Issue.PART 1 , pp. 1-16
    • Thöny, B.1    Auerbach, G.2    Blau, N.3
  • 3
    • 0027354029 scopus 로고
    • Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis
    • Nygaard TG (1993) Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis. Adv Neurol 60:577-585
    • (1993) Adv Neurol , vol.60 , pp. 577-585
    • Nygaard, T.G.1
  • 4
    • 0036266154 scopus 로고    scopus 로고
    • Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: Confusing the picture?
    • DOI 10.1136/jnnp.72.6.801
    • Grimes DA, Barclay CL, Duff J, Furukawa Y, Lang AE (2002) Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture? J Neurol Neurosurg Psychiatry 72:801-804 (Pubitemid 34557029)
    • (2002) Journal of Neurology Neurosurgery and Psychiatry , vol.72 , Issue.6 , pp. 801-804
    • Grimes, D.A.1    Barclay, C.L.2    Duff, J.3    Furukawa, Y.4    Lang, A.E.5
  • 6
    • 0034788778 scopus 로고    scopus 로고
    • Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of DOPA-responsive dystonia and sepiapterin reductase deficiency
    • DOI 10.1006/mgme.2001.3213
    • Blau N, Bonafe L, Thöny B (2001) Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of doparesponsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab 74:172-185 (Pubitemid 32955158)
    • (2001) Molecular Genetics and Metabolism , vol.74 , Issue.1-2 , pp. 172-185
    • Blau, N.1    Bonafe, L.2    Thony, B.3
  • 9
    • 8144220153 scopus 로고    scopus 로고
    • Phenyalanine loading as a diagnostic test for DRD: Interpreting the utility of the test
    • Saunders-Pullmann R, Blau N, Hyland K et al (2004) Phenyalanine loading as a diagnostic test for DRD: interpreting the utility of the test. Mol Genet Metab 83:207-212
    • (2004) Mol Genet Metab , vol.83 , pp. 207-212
    • Saunders-Pullmann, R.1    Blau, N.2    Hyland, K.3
  • 11
    • 0037639877 scopus 로고    scopus 로고
    • Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Results, outcome, and implications
    • DOI 10.1542/peds.111.6.1399
    • Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF (2003) Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 111:1399-1406 (Pubitemid 36682277)
    • (2003) Pediatrics , vol.111 , Issue.6 I , pp. 1399-1406
    • Schulze, A.1    Lindner, M.2    Kohlmuller, D.3    Olgemoller, K.4    Mayatepek, E.5    Hoffmann, G.F.6
  • 12
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    • Pterins and related enzymes
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  • 15
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    • Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.