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Volumn 47, Issue 11, 2001, Pages 1945-1955

Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England newborn screening program

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; AMINO ACID; ARGININE; ARGININOSUCCINATE LYASE; CARNITINE PALMITOYLTRANSFERASE; FATTY ACID; METHIONINE; METHYLCROTONOYL COENZYME A CARBOXYLASE; PHENYLALANINE; PROPIONIC ACID;

EID: 0034775820     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/47.11.1945     Document Type: Article
Times cited : (456)

References (34)
  • 23
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    • The molecular basis of medium-chain acyl-coenzyme A 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
    • (1990) J Clin Invest , vol.86 , pp. 1000-1003
    • Yokota, I.1    Indo, Y.2    Coates, P.M.3    Tanaka, K.4
  • 24
    • 6844258223 scopus 로고    scopus 로고
    • Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: One of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the general population, as was the case for 625G→A, together conferring susceptibility to ethylmalonic aciduria
    • (1998) Hum Mol Genet , vol.7 , pp. 619-627
    • Gregersen, N.1    Winter, V.S.2    Corydon, M.J.3    Corydon, T.J.4    Rinaldo, P.5    Ribes, A.6
  • 31
    • 0342405002 scopus 로고
    • Workshop on molecular aspects of MCAD deficiency. Mutations causing medium-chain acyl-CoA dehydrogenase deficiency. A collaborative compilation of the data from 172 patients
    • Coates PM, Tanaka K, eds. New York: Wiley-Liss
    • (1992) New developments in fatty acid oxidation , pp. 499-506


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.