메뉴 건너뛰기




Volumn 44, Issue 1, 1998, Pages 83-84

High risk of medium chain acyl-coenzyme a dehydrognase deficiency among gypsies

Author keywords

[No Author keywords available]

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

EID: 0031843312     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199807000-00013     Document Type: Article
Times cited : (18)

References (10)
  • 1
    • 0000576457 scopus 로고
    • Mitochondrial fatty acid oxidation disorders
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
    • Roe CR, Coates PM 1995 Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill, New York, pp 1501-1534
    • (1995) The Metabolic and Molecular Basis of Inherited Disease , pp. 1501-1534
    • Roe, C.R.1    Coates, P.M.2
  • 2
    • 0028265830 scopus 로고
    • Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children
    • Iafolla AK, Thompson RJ, Roe CR 1994 Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr 124:409-415
    • (1994) J Pediatr , vol.124 , pp. 409-415
    • Iafolla, A.K.1    Thompson, R.J.2    Roe, C.R.3
  • 5
    • 0025010623 scopus 로고
    • Molecular basis of medium-chain acyl-Coa dehydrogenase deficiency: An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation
    • Yokota I, Indo Y, Coates PM, Tanaka K 1990 Molecular basis of medium-chain acyl-CoA dehydrogenase deficiency: an A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation. J Clin Invest 86:1000-1003
    • (1990) J Clin Invest , vol.86 , pp. 1000-1003
    • Yokota, I.1    Indo, Y.2    Coates, P.M.3    Tanaka, K.4
  • 6
    • 0026715670 scopus 로고
    • Mutations causing medium-chain Acyl-Coa dehydrogenase deficiency: A collaborative compilation of the data from 172 patients. Workshop on Molecular Aspects of MCAD Deficiency
    • Anonymous 1992 Mutations causing medium-chain Acyl-CoA dehydrogenase deficiency: a collaborative compilation of the data from 172 patients. Workshop on Molecular Aspects of MCAD Deficiency. Prog Clin Biol Res 375:499-506
    • (1992) Prog Clin Biol Res , vol.375 , pp. 499-506
  • 9
    • 0027408614 scopus 로고
    • Laboratory diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by the amplification refractory mutation system
    • Tsai MY, Schwichtenberg K, Tuchman M 1993 Laboratory diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by the amplification refractory mutation system. Clin Chem 39:280-283
    • (1993) Clin Chem , vol.39 , pp. 280-283
    • Tsai, M.Y.1    Schwichtenberg, K.2    Tuchman, M.3
  • 10
    • 0027486851 scopus 로고
    • Improved PCR/NcoI method for the molecular diagnosis of medium chain acyl-CoA dehydrogenase deficiency using dried blood samples: Two-stage amplification using two different sets of primers improves accuracy and sensitivity
    • Nagao M, Raymond D, Kim J, Tanaka K 1993 Improved PCR/NcoI method for the molecular diagnosis of medium chain acyl-CoA dehydrogenase deficiency using dried blood samples: two-stage amplification using two different sets of primers improves accuracy and sensitivity. Clin Chim Acta 220:165-174
    • (1993) Clin Chim Acta , vol.220 , pp. 165-174
    • Nagao, M.1    Raymond, D.2    Kim, J.3    Tanaka, K.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.