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Volumn 27, Issue 3, 2006, Pages 584-585

Central tegmental tract involvement in an infant with 6- pyruvoyltetrahydropterin synthetase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; TETRAHYDROBIOPTERIN; 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE; LYASE;

EID: 33745919221     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (12)

References (8)
  • 1
    • 0000138089 scopus 로고    scopus 로고
    • Disorders of tetrahydrobiopterin and related biogenic amines
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
    • Blau N, Thony B, Cotton RGH, et al. Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001:1725-76
    • (2001) The Metabolic and Molecular Bases of Inherited Disease. 8th Ed. , pp. 1725-1776
    • Blau, N.1    Thony, B.2    Cotton, R.G.H.3
  • 2
    • 0035719532 scopus 로고    scopus 로고
    • Treatment and outcome of Taiwanese patients with 6- pyruvoyltetrahydropterin synthetase gene mutation
    • Chien YH, Chiang SC, Huang A, et al. Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthetase gene mutation. J Inherit Metab Dis 2001;24:815-23
    • (2001) J Inherit Metab Dis , vol.24 , pp. 815-823
    • Chien, Y.H.1    Chiang, S.C.2    Huang, A.3
  • 3
    • 0036083972 scopus 로고    scopus 로고
    • Cranial MR spectroscopy of tetrahydrobiopterin deficiency
    • Chien YH, Peng SF, Wang TR, et al. Cranial MR spectroscopy of tetrahydrobiopterin deficiency. AJNR Am J Neuroradiol 2002;23:1055-58
    • (2002) AJNR Am J Neuroradiol , vol.23 , pp. 1055-1058
    • Chien, Y.H.1    Peng, S.F.2    Wang, T.R.3
  • 4
    • 0023177515 scopus 로고
    • Sequence of central nervous system myelination in human infancy. I. An autopsy study of myelination
    • Brody BA, Kinney HC, Kloman AS, et al. Sequence of central nervous system myelination in human infancy. I. An autopsy study of myelination. J Neuropathol Exp Neurol 1987;46:283-301
    • (1987) J Neuropathol Exp Neurol , vol.46 , pp. 283-301
    • Brody, B.A.1    Kinney, H.C.2    Kloman, A.S.3
  • 5
    • 0030975392 scopus 로고    scopus 로고
    • A new leukoencephalopathy with vanishing white matter
    • Van der Knaap MS, Barth PG, Gabreëls FJM, et al. A new leukoencephalopathy with vanishing white matter. Neurology 1997;48:845-55
    • (1997) Neurology , vol.48 , pp. 845-855
    • Van Der Knaap, M.S.1    Barth, P.G.2    Gabreëls, F.J.M.3
  • 6
    • 0037938571 scopus 로고    scopus 로고
    • Diffusion-weighted MR imaging in neonatal nonketotic hyperglycinemia
    • Khong PL, Lam BCC, Chung BHY, et al. Diffusion-weighted MR imaging in neonatal nonketotic hyperglycinemia. AJNR Am J Neuroradiol 2003;24:1181-83
    • (2003) AJNR Am J Neuroradiol , vol.24 , pp. 1181-1183
    • Khong, P.L.1    Lam, B.C.C.2    Chung, B.H.Y.3
  • 7
    • 16644376107 scopus 로고    scopus 로고
    • Reversible white matter lesion in methionine adenosyltransferase I/III deficiency
    • Tada H, Takanashi I, Barkovich AI, et al. Reversible white matter lesion in methionine adenosyltransferase I/III deficiency. AJNR Am J Neuroradiol 2004;25:1843-45
    • (2004) AJNR Am J Neuroradiol , vol.25 , pp. 1843-1845
    • Tada, H.1    Takanashi, I.2    Barkovich, A.I.3
  • 8
    • 0038275810 scopus 로고    scopus 로고
    • Leigh syndrome with COX deficiency and. SURF1 gene mutations: MR imaging findings
    • Rossi A, Biancheri R, Bruno C, et al. Leigh syndrome with COX deficiency and. SURF1 gene mutations: MR imaging findings. AJNR Am J Neuroradiol 2003;24:1188-91
    • (2003) AJNR Am J Neuroradiol , vol.24 , pp. 1188-1191
    • Rossi, A.1    Biancheri, R.2    Bruno, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.