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Volumn 97, Issue 3, 1996, Pages 367-368

Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France

Author keywords

[No Author keywords available]

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

EID: 0029671087     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02185775     Document Type: Article
Times cited : (21)

References (14)
  • 3
    • 0027438714 scopus 로고
    • Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS)
    • Dundar M, Lanyon WG, Connor JM (1993) Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS). J Inherit Metab Dis 16:991-993
    • (1993) J Inherit Metab Dis , vol.16 , pp. 991-993
    • Dundar, M.1    Lanyon, W.G.2    Connor, J.M.3
  • 5
    • 0029039479 scopus 로고
    • Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?
    • Ged C, El Sebai H, De Verneuil H, Parrot-Rouleau F (1995) Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France? J Inherit Metab Dis 18: 253-256
    • (1995) J Inherit Metab Dis , vol.18 , pp. 253-256
    • Ged, C.1    El Sebai, H.2    De Verneuil, H.3    Parrot-Rouleau, F.4
  • 9
    • 0027196526 scopus 로고
    • The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome
    • Lundemose JB, Gregersen N, Kolvraa S, Pedersen BN, Gregersen M, Helweg-Larsen K, Simonsen J (1993) The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome. Acta Paediarr 82: 544-546
    • (1993) Acta Paediarr , vol.82 , pp. 544-546
    • Lundemose, J.B.1    Gregersen, N.2    Kolvraa, S.3    Pedersen, B.N.4    Gregersen, M.5    Helweg-Larsen, K.6    Simonsen, J.7
  • 10
    • 0025781582 scopus 로고
    • Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards
    • Matsubara Y, Narisawa K, Tada K, Ikeda H, Yao YQ, Danks DM, Green A, McCabe ERB (1991) Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards. Lancet 338: 552-553
    • (1991) Lancet , vol.338 , pp. 552-553
    • Matsubara, Y.1    Narisawa, K.2    Tada, K.3    Ikeda, H.4    Yao, Y.Q.5    Danks, D.M.6    Green, A.7    McCabe, E.R.B.8
  • 11
    • 0026560962 scopus 로고
    • Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome
    • Miller ME, Brooks JG, Forbes N, Insel R (1992) Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome. Pediatr Res 31: 305-307
    • (1992) Pediatr Res , vol.31 , pp. 305-307
    • Miller, M.E.1    Brooks, J.G.2    Forbes, N.3    Insel, R.4
  • 12
    • 0001607995 scopus 로고
    • Acyl-CoA dehydrogenase deficiencies
    • Scriver CL, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
    • Roe CR, Coates PM (1989) Acyl-CoA dehydrogenase deficiencies. In: Scriver CL, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 889-914
    • (1989) The Metabolic Basis of Inherited Disease, 6th Edn. , pp. 889-914
    • Roe, C.R.1    Coates, P.M.2
  • 14
    • 0026322069 scopus 로고
    • 985A-to-G transition, and identification of five infrequent mutations in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency
    • 985A-to-G transition, and identification of five infrequent mutations in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. Am J Hum Genet 49: 1280-1291
    • (1991) Am J Hum Genet , vol.49 , pp. 1280-1291
    • Yokota, I.1    Coates, P.M.2    Hale, D.E.3    Rinaldo, P.4    Tanaka, K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.