메뉴 건너뛰기




Volumn 369, Issue 9555, 2007, Pages 5-6

Newborn screening for inherited metabolic disease

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

EID: 33845895264     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(07)60005-1     Document Type: Note
Times cited : (12)

References (14)
  • 1
    • 33845897373 scopus 로고    scopus 로고
    • Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study
    • Wilcken B., Haas M., Joy P., et al. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet 369 (2007) 37-42
    • (2007) Lancet , vol.369 , pp. 37-42
    • Wilcken, B.1    Haas, M.2    Joy, P.3
  • 2
    • 0028285747 scopus 로고
    • Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency
    • Wilcken B., Hammond J., and Silink M. Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. Arch Dis Child 70 (1994) 410-412
    • (1994) Arch Dis Child , vol.70 , pp. 410-412
    • Wilcken, B.1    Hammond, J.2    Silink, M.3
  • 3
    • 33646918012 scopus 로고    scopus 로고
    • The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome
    • Derks T., Reijngoud D., Waterham H., et al. The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Pediatr 148 (2006) 665-670
    • (2006) J Pediatr , vol.148 , pp. 665-670
    • Derks, T.1    Reijngoud, D.2    Waterham, H.3
  • 4
    • 0031904754 scopus 로고    scopus 로고
    • Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK
    • Pollitt R., and Leonard J. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. Arch Dis Child 79 (1998) 116-119
    • (1998) Arch Dis Child , vol.79 , pp. 116-119
    • Pollitt, R.1    Leonard, J.2
  • 5
    • 0035968582 scopus 로고    scopus 로고
    • Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency
    • Pourfarzam M., Morris A., Appleton M., Craft A., and Bartlett K. Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. Lancet 358 (2001) 1063-1064
    • (2001) Lancet , vol.358 , pp. 1063-1064
    • Pourfarzam, M.1    Morris, A.2    Appleton, M.3    Craft, A.4    Bartlett, K.5
  • 6
    • 33646775349 scopus 로고    scopus 로고
    • The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update
    • Grosse S., Khoury M., Greene C., et al. The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update. Genet Med 8 (2006) 205-212
    • (2006) Genet Med , vol.8 , pp. 205-212
    • Grosse, S.1    Khoury, M.2    Greene, C.3
  • 7
    • 0344081182 scopus 로고    scopus 로고
    • Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
    • Waisbren S., Albers S., Amato S., et al. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 290 (2003) 2564-2572
    • (2003) JAMA , vol.290 , pp. 2564-2572
    • Waisbren, S.1    Albers, S.2    Amato, S.3
  • 8
    • 0031709508 scopus 로고    scopus 로고
    • Outcome of very preterm birth: children reviewed with ease at 2 years differ from those followed up with difficulty
    • Tin W., Fritz S., Wariyar U., and Hey E. Outcome of very preterm birth: children reviewed with ease at 2 years differ from those followed up with difficulty. Arch Dis Child Fetal Neonatal Ed 79 (1998) F83-F87
    • (1998) Arch Dis Child Fetal Neonatal Ed , vol.79
    • Tin, W.1    Fritz, S.2    Wariyar, U.3    Hey, E.4
  • 9
    • 29344452147 scopus 로고    scopus 로고
    • Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations
    • Waddell L., Wiley V., Carpenter K., et al. Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. Mol Genet Metab 87 (2006) 32-39
    • (2006) Mol Genet Metab , vol.87 , pp. 32-39
    • Waddell, L.1    Wiley, V.2    Carpenter, K.3
  • 10
    • 0242300682 scopus 로고    scopus 로고
    • Newborn screening by tandem mass spectrometry for medium-chain acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis
    • Venditti L., Venditti C., Berry G., et al. Newborn screening by tandem mass spectrometry for medium-chain acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis. Pediatrics 112 (2003) 1005-1015
    • (2003) Pediatrics , vol.112 , pp. 1005-1015
    • Venditti, L.1    Venditti, C.2    Berry, G.3
  • 11
    • 33744810358 scopus 로고    scopus 로고
    • Comprehensive cost-utility analysis of newborn screening strategies
    • Carroll A., and Downs S. Comprehensive cost-utility analysis of newborn screening strategies. Pediatrics 117 (2006) 287-295
    • (2006) Pediatrics , vol.117 , pp. 287-295
    • Carroll, A.1    Downs, S.2
  • 12
    • 17344383506 scopus 로고    scopus 로고
    • Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review
    • Pandor A., Eastham J., Beverley C., et al. Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Health Technol Assess 8 (2004) 1-121
    • (2004) Health Technol Assess , vol.8 , pp. 1-121
    • Pandor, A.1    Eastham, J.2    Beverley, C.3
  • 13
    • 33744832631 scopus 로고    scopus 로고
    • Economic evaluation of tandem mass spectrometry screening in California
    • Feuchtbaum L., and Cunningham G. Economic evaluation of tandem mass spectrometry screening in California. Pediatrics 117 (2006) 280-286
    • (2006) Pediatrics , vol.117 , pp. 280-286
    • Feuchtbaum, L.1    Cunningham, G.2
  • 14
    • 23844439707 scopus 로고    scopus 로고
    • Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland
    • Autti-Ramo I., Makela M., Sintonen H., et al. Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland. Acta Paediatr 94 (2005) 1126-1136
    • (2005) Acta Paediatr , vol.94 , pp. 1126-1136
    • Autti-Ramo, I.1    Makela, M.2    Sintonen, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.