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Volumn 353, Issue 18, 2005, Pages 1968-1970

Metabolic disorders in the center of genetic medicine

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMATE AMMONIA LIGASE; GLUTAMIC ACID;

EID: 27644474626     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMe058227     Document Type: Editorial
Times cited : (6)

References (15)
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    • Phenylketonuria: Epitome of human biochemical genetics
    • Scriver CR, Clow CL. Phenylketonuria: epitome of human biochemical genetics. N Engl J Med 1980;303:1336-42, 1394-400.
    • (1980) N Engl J Med , vol.303 , pp. 1336-1342
    • Scriver, C.R.1    Clow, C.L.2
  • 4
    • 0021918515 scopus 로고
    • Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase
    • Kwok SCM, Ledley FD, DiLella AG, Robson KJH, Woo SLC. Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry 1985;24:556-61.
    • (1985) Biochemistry , vol.24 , pp. 556-561
    • Kwok, S.C.M.1    Ledley, F.D.2    DiLella, A.G.3    Robson, K.J.H.4    Woo, S.L.C.5
  • 6
    • 0014669715 scopus 로고
    • A derangement of B12 metabolism leading to homocystinemia, cystathioninemia, and methylmalonic aciduria
    • Mudd SH, Levy HL, Abeles RH, Kennedy JP Jr. A derangement of B12 metabolism leading to homocystinemia, cystathioninemia, and methylmalonic aciduria. Biochem Biophys Res Commun 1969;35:121-6.
    • (1969) Biochem Biophys Res Commun , vol.35 , pp. 121-126
    • Mudd, S.H.1    Levy, H.L.2    Abeles, R.H.3    Kennedy Jr., J.P.4
  • 7
    • 0014545138 scopus 로고
    • Vascular pathology of homocysteinemia: Implications for the pathogenesis of arteriosclerosis
    • McCully KS. Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis. Am J Pathol 1969;56:111-28.
    • (1969) Am J Pathol , vol.56 , pp. 111-128
    • McCully, K.S.1
  • 8
    • 0030826587 scopus 로고    scopus 로고
    • Thermolabile methylenetetrahydrofolate reductase in coronary artery disease
    • Kluijtmans LAJ, Kastelein JJP, Lindemans J, et al. Thermolabile methylenetetrahydrofolate reductase in coronary artery disease. Circulation 1997;96:2573-7.
    • (1997) Circulation , vol.96 , pp. 2573-2577
    • Kluijtmans, L.A.J.1    Kastelein, J.J.P.2    Lindemans, J.3
  • 9
    • 27644536273 scopus 로고    scopus 로고
    • Congenital glutamine deficiency with glutamine synthetase mutations
    • Häberle J, Görg B, Rutsch F, et al. Congenital glutamine deficiency with glutamine synthetase mutations. N Engl J Med 2005;353:1926-33.
    • (2005) N Engl J Med , vol.353 , pp. 1926-1933
    • Häberle, J.1    Görg, B.2    Rutsch, F.3
  • 10
    • 0034771851 scopus 로고    scopus 로고
    • Glutamine deprivation-mediated cell shrinkage induces ligand-independent CD95 receptor signaling and apoptosis
    • Fumarola C, Zerbini A, Guidotti GG. Glutamine deprivation-mediated cell shrinkage induces ligand-independent CD95 receptor signaling and apoptosis. Cell Death Differ 2001;8:1004-13.
    • (2001) Cell Death Differ , vol.8 , pp. 1004-1013
    • Fumarola, C.1    Zerbini, A.2    Guidotti, G.G.3
  • 11
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    • Comparison of the oxidation of glutamine, glucose, ketone bodies and fatty acids by human diploid fibroblasts
    • Sumbilla CM, Zielke CL, Reed WD, Ozand PT, Zielke HR. Comparison of the oxidation of glutamine, glucose, ketone bodies and fatty acids by human diploid fibroblasts. Biochim Biophys Acta 1981;675:301-4.
    • (1981) Biochim Biophys Acta , vol.675 , pp. 301-304
    • Sumbilla, C.M.1    Zielke, C.L.2    Reed, W.D.3    Ozand, P.T.4    Zielke, H.R.5
  • 15
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    • Expanded newborn screening using tandem mass spectrometry
    • Fearing MK, Levy HL. Expanded newborn screening using tandem mass spectrometry. Adv Pediatr 2003;50:81-111.
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    • Fearing, M.K.1    Levy, H.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.