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Volumn 142 C, Issue 2, 2006, Pages 61-63

Inborn errors of metabolism: New challenges with expanded newborn screening programs

Author keywords

[No Author keywords available]

Indexed keywords

2 METHYL 3 HYDROXYBUTYRYL COENZYME A DEHYDROGENASE; 2 METHYLBUTYRYL COENZYME A DEHYDROGENASE; ACETYL COENZYME A ACYLTRANSFERASE; ACYLCARNITINE; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; FATTY ACID; ISOBUTYRYL COENZYME A DEHYDROGENASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; METHYLCROTONOYL COENZYME A CARBOXYLASE; UNCLASSIFIED DRUG;

EID: 33646526547     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30085     Document Type: Editorial
Times cited : (3)

References (10)
  • 1
    • 6344262303 scopus 로고    scopus 로고
    • Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: Analysis of succinylacetone extracted from dried blood spots
    • Allard P, Grenier A, Korson MS, Zytkovicz TH. 2004. Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: Analysis of succinylacetone extracted from dried blood spots. Clin Biochem 37:1010-1015.
    • (2004) Clin Biochem , vol.37 , pp. 1010-1015
    • Allard, P.1    Grenier, A.2    Korson, M.S.3    Zytkovicz, T.H.4
  • 2
    • 0034985656 scopus 로고    scopus 로고
    • Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency
    • Andresen BS, Dobrowolski SF, O'Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Bross P, Knudsen I, Banas R, Chace DH, Engel P, Naylor EW, Gregersen N. 2001. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet 68:1408-1418.
    • (2001) Am J Hum Genet , vol.68 , pp. 1408-1418
    • Andresen, B.S.1    Dobrowolski, S.F.2    O'Reilly, L.3    Muenzer, J.4    McCandless, S.E.5    Frazier, D.M.6    Udvari, S.7    Bross, P.8    Knudsen, I.9    Banas, R.10    Chace, D.H.11    Engel, P.12    Naylor, E.W.13    Gregersen, N.14
  • 7
    • 0033188330 scopus 로고    scopus 로고
    • Medium-chain acyl-CoA dehydrogenase deficiency: Sudden and unexpected death of a 45 year old woman
    • Raymond K, Bale AE, Barnes CA, Rinaldo P. 1999. Medium-chain acyl-CoA dehydrogenase deficiency: Sudden and unexpected death of a 45 year old woman. Genet Med 1:293-294.
    • (1999) Genet Med , vol.1 , pp. 293-294
    • Raymond, K.1    Bale, A.E.2    Barnes, C.A.3    Rinaldo, P.4
  • 8
    • 33646496837 scopus 로고    scopus 로고
    • Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency
    • Scaglia F, Lee B. 2006. Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. Am J Med Genet Part C Semin Med Genet 142C:113-120.
    • (2006) Am J Med Genet Part C Semin Med Genet , vol.142 C , pp. 113-120
    • Scaglia, F.1    Lee, B.2
  • 10
    • 33646533134 scopus 로고    scopus 로고
    • Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity
    • Vockley J, Ensenauer R. 2006. Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity. Am J Med Genet Part C Semin Med Genet 142C:95-103.
    • (2006) Am J Med Genet Part C Semin Med Genet , vol.142 C , pp. 95-103
    • Vockley, J.1    Ensenauer, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.