메뉴 건너뛰기




Volumn 56, Issue 5, 2004, Pages 547-550

Facial anomalies in patients with cytochrome-c-oxidase (COX) deficiency: A dysneurulation

Author keywords

Central nervous system; Cytochrome c oxidase; Facial bones abnormalities; Isoenzymes deficiency

Indexed keywords

CYTOCHROME C OXIDASE;

EID: 10044269574     PISSN: 00264946     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (12)
  • 3
    • 84924635809 scopus 로고
    • Retinitis pigmentosa, external ophthalmoplegia and complete heart block
    • Kearns TP, Sayre CP. Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Arch Ophthalm 1958;60:280-9.
    • (1958) Arch Ophthalm , vol.60 , pp. 280-289
    • Kearns, T.P.1    Sayre, C.P.2
  • 4
    • 0015821371 scopus 로고
    • Recognition of the fetal alcohol syndrome in early infancy
    • Jones KL, Smith DW. Recognition of the fetal alcohol syndrome in early infancy. Lancet 1973;2:999-1001.
    • (1973) Lancet , vol.2 , pp. 999-1001
    • Jones, K.L.1    Smith, D.W.2
  • 5
    • 0015918403 scopus 로고
    • Pattern of malformation in offsprings if chronic alcoholic mothers
    • Jones KL, Smith DW, Ulleland CN, Streissguth AP. Pattern of malformation in offsprings if chronic alcoholic mothers. Lancet 1973;1:1267-71.
    • (1973) Lancet , vol.1 , pp. 1267-1271
    • Jones, K.L.1    Smith, D.W.2    Ulleland, C.N.3    Streissguth, A.P.4
  • 6
    • 0023200575 scopus 로고
    • Variable clinical presentation in patients with deficiency of the pyruvate dehydrogenase complex
    • Robinson BH, Mac Millan H, Petrova-Benedicht LR, Sherwood WG. Variable clinical presentation in patients with deficiency of the pyruvate dehydrogenase complex. J Pediatr 1987;111:525-33.
    • (1987) J Pediatr , vol.111 , pp. 525-533
    • Robinson, B.H.1    Mac Millan, H.2    Petrova-Benedicht, L.R.3    Sherwood, W.G.4
  • 8
    • 0021084496 scopus 로고
    • Nouvelle conception de la maladie de Pierre Robin
    • Couly G. Nouvelle conception de la maladie de Pierre Robin. Rev Stomatol Chir Maxillofac 1983;84:225-32.
    • (1983) Rev Stomatol Chir Maxillofac , vol.84 , pp. 225-232
    • Couly, G.1
  • 9
    • 0015923569 scopus 로고
    • Contribution du Meséctoderme à la genèse des arcs aortiques chez l'embryon d'oiseau
    • Le Liève C, Le Douarin N. Contribution du Meséctoderme à la genèse des arcs aortiques chez l'embryon d'oiseau. CR Acad Sci 1973;276:383-6.
    • (1973) CR Acad Sci , vol.276 , pp. 383-386
    • Le Liève, C.1    Le Douarin, N.2
  • 10
    • 0025825366 scopus 로고
    • Examen et conduite à tenir devant une malformation faciale
    • Chéron G, Abadie V. Examen et conduite à tenir devant une malformation faciale. Rev Prat 1991;1:24-8.
    • (1991) Rev Prat , vol.1 , pp. 24-28
    • Chéron, G.1    Abadie, V.2
  • 11
    • 0026037056 scopus 로고
    • Les accidents morphologiques autres que les fentes labio-maxillaires
    • Mercier J. Les accidents morphologiques autres que les fentes labio-maxillaires. Rev Prat 1991;1:38-44.
    • (1991) Rev Prat , vol.1 , pp. 38-44
    • Mercier, J.1
  • 12
    • 0001922497 scopus 로고    scopus 로고
    • Lactacidemia
    • Scriver CR, Beaudet AC, Sly WS, Valle D editors. New York: Mc Graw-Hill
    • Robinson BH. Lactacidemia. In: Scriver CR, Beaudet AC, Sly WS, Valle D editors. The metabolic and molecular bases of inherited diseases. New York: Mc Graw-Hill; 2001.p.2275-95.
    • (2001) The Metabolic and Molecular Bases of Inherited Diseases , pp. 2275-2295
    • Robinson, B.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.