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Pediatrics
Volumn 118, Issue 6, 2006, Pages 2555-2556
3-Methylcrotonyl-CoA carboxylase deficiency: Metabolic decompensation in a noncompliant child detected through newborn screening
Author keywords

3 methylcrotonyl CoA carboxylase deficiency; Newborn screening
Indexed keywords

BICARBONATE; CARNITINE; GLUCOSE; METHYLCROTONOYL COENZYME A CARBOXYLASE; LEUCINE; LIGASE; METHYLCROTONOYL COA CARBOXYLASE; METHYLCROTONOYL-COA CARBOXYLASE;
EID: 33947171967     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2006-1659     Document Type: Article
Times cited : (20)
References (5)
  • 1
    • 31644442104 scopus 로고    scopus 로고
    • 3-Methylcrotonyl-CoA carboxylase deficiency: Mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening
    • Dantas MF, Suormala T, Randolph A, et al. 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. Hum Mutat. 2005;26:164
    • (2005) Hum Mutat , vol.26 , pp. 164
    • Dantas, M.F.1    Suormala, T.2    Randolph, A.3
  • 2
    • 10744224987 scopus 로고    scopus 로고
    • Evaluation of 3-Methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening
    • Koeberl DD, Millington DS, Smith WE, et al. Evaluation of 3-Methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. J Inherit Metab Dis. 2003;26:25-35
    • (2003) J Inherit Metab Dis , vol.26 , pp. 25-35
    • Koeberl, D.D.1    Millington, D.S.2    Smith, W.E.3
  • 3
    • 0029119524 scopus 로고
    • 3- Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase
    • Roeschinger W, Millington DS, Gage DA, et al. 3- Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase. Clin Chim Acta. 1995;240:35-51
    • (1995) Clin Chim Acta , vol.240 , pp. 35-51
    • Roeschinger, W.1    Millington, D.S.2    Gage, D.A.3
  • 4
    • 0003237157 scopus 로고    scopus 로고
    • Branched chain organic acidurias
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds, 8th ed. New York, NY: McGraw-Hill;
    • SweetmanL, Williams JA. Branched chain organic acidurias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic & Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:2125-2168
    • (2001) The Metabolic & Molecular Bases of Inherited Disease , pp. 2125-2168
    • Sweetman, L.1    Williams, J.A.2
  • 5
    • 31644441156 scopus 로고    scopus 로고
    • The knowledge gap in expanded newborn screening: Survey results from pediatricians in Massachusetts
    • Gennaccaro M, Waisbren SE, Marsden D. The knowledge gap in expanded newborn screening: survey results from pediatricians in Massachusetts. J Inherit Metab Dis. 2005;28:819-824
    • (2005) J Inherit Metab Dis , vol.28 , pp. 819-824
    • Gennaccaro, M.1    Waisbren, S.E.2    Marsden, D.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.