메뉴 건너뛰기




Volumn 14, Issue 2, 2010, Pages 125-130

Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism

Author keywords

Inborn errors of metabolism; Neonates; Perimortem protocol

Indexed keywords

ARGININOSUCCINATE LYASE; METHYLMALONIC ACID; MOLYBDENUM; ORNITHINE CARBAMOYLTRANSFERASE;

EID: 75349094535     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2009.05.001     Document Type: Article
Times cited : (8)

References (19)
  • 3
    • 22744455194 scopus 로고    scopus 로고
    • Retrospective study of patients with suspected inborn errors of metabolism at Siriraj Hospital, Bangkok, Thailand (1997-2001)
    • Wasant P., Vatanavicharn N., Srisomsap C., Sawangareetrakul P., Liammongkolkul S., and Svasti J. Retrospective study of patients with suspected inborn errors of metabolism at Siriraj Hospital, Bangkok, Thailand (1997-2001). J Med Assoc Thai 88 (2005) 746-753
    • (2005) J Med Assoc Thai , vol.88 , pp. 746-753
    • Wasant, P.1    Vatanavicharn, N.2    Srisomsap, C.3    Sawangareetrakul, P.4    Liammongkolkul, S.5    Svasti, J.6
  • 4
    • 0031947739 scopus 로고    scopus 로고
    • A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK
    • Hutchesson A.C., Bundey S., Preece M.A., Hall S.K., and Green A. A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK. J Med Genet 35 (1998) 366-370
    • (1998) J Med Genet , vol.35 , pp. 366-370
    • Hutchesson, A.C.1    Bundey, S.2    Preece, M.A.3    Hall, S.K.4    Green, A.5
  • 5
    • 34548301773 scopus 로고    scopus 로고
    • Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman
    • Joshi S.N., and Venugopalan P. Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman. Brain Dev 29 (2007) 543-546
    • (2007) Brain Dev , vol.29 , pp. 543-546
    • Joshi, S.N.1    Venugopalan, P.2
  • 6
    • 0032924831 scopus 로고    scopus 로고
    • Neonatal presentations of mitochondrial metabolic disorders
    • Sue C.M., Hirano M., DiMauro S., and De Vivo D.C. Neonatal presentations of mitochondrial metabolic disorders. Semin Perinatol 23 (1999) 113-124
    • (1999) Semin Perinatol , vol.23 , pp. 113-124
    • Sue, C.M.1    Hirano, M.2    DiMauro, S.3    De Vivo, D.C.4
  • 7
    • 0021162081 scopus 로고
    • Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis
    • Moreadith R.W., Batshaw M.L., Ohnishi T., Kerr D., Knox B., Jackson D., et al. Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis. J Clin Invest 74 (1984) 685-697
    • (1984) J Clin Invest , vol.74 , pp. 685-697
    • Moreadith, R.W.1    Batshaw, M.L.2    Ohnishi, T.3    Kerr, D.4    Knox, B.5    Jackson, D.6
  • 8
    • 0022487208 scopus 로고
    • Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia
    • Robinson B.H., Ward J., Goodyer P., and Baudet A. Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia. J Clin Invest 77 (1986) 1422-1427
    • (1986) J Clin Invest , vol.77 , pp. 1422-1427
    • Robinson, B.H.1    Ward, J.2    Goodyer, P.3    Baudet, A.4
  • 9
    • 0033766123 scopus 로고    scopus 로고
    • Human cytochrome oxidase deficiency
    • Robinson B.H. Human cytochrome oxidase deficiency. Pediatr Res. 48 (2000) 581-585
    • (2000) Pediatr Res. , vol.48 , pp. 581-585
    • Robinson, B.H.1
  • 10
    • 34247150665 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood
    • Sarzi E., Bourdon A., Chrétien D., Zarhrate M., Corcos J., Slama A., et al. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr 150 (2007) 531-534
    • (2007) J Pediatr , vol.150 , pp. 531-534
    • Sarzi, E.1    Bourdon, A.2    Chrétien, D.3    Zarhrate, M.4    Corcos, J.5    Slama, A.6
  • 11
    • 18344392101 scopus 로고    scopus 로고
    • Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology
    • Aronica E., van Kempen A.A., van der Heide M., Poll-The B.T., van Slooten H.J., Troost D., et al. Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. Acta Neuropathol 109 (2005) 433-442
    • (2005) Acta Neuropathol , vol.109 , pp. 433-442
    • Aronica, E.1    van Kempen, A.A.2    van der Heide, M.3    Poll-The, B.T.4    van Slooten, H.J.5    Troost, D.6
  • 12
    • 0036975426 scopus 로고    scopus 로고
    • Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia
    • Briones P., Vilaseca M.A., Schollen E., Ferrer I., Maties M., Busquets C., et al. Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. J Inherit Metab Dis 25 (2002) 635-646
    • (2002) J Inherit Metab Dis , vol.25 , pp. 635-646
    • Briones, P.1    Vilaseca, M.A.2    Schollen, E.3    Ferrer, I.4    Maties, M.5    Busquets, C.6
  • 13
    • 0038201983 scopus 로고    scopus 로고
    • Ornithine transcarbamylase deficiency: a urea cycle defect
    • Gordon N. Ornithine transcarbamylase deficiency: a urea cycle defect. Eur J Paediatr Neurol 7 (2003) 115-121
    • (2003) Eur J Paediatr Neurol , vol.7 , pp. 115-121
    • Gordon, N.1
  • 14
    • 34447251606 scopus 로고    scopus 로고
    • Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene
    • Trevisson E., Salviati L., Baldoin M.C., Toldo I., Casarin A., Sacconi S., et al. Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. Hum Mutat 28 (2007) 694-702
    • (2007) Hum Mutat , vol.28 , pp. 694-702
    • Trevisson, E.1    Salviati, L.2    Baldoin, M.C.3    Toldo, I.4    Casarin, A.5    Sacconi, S.6
  • 16
    • 0036304967 scopus 로고    scopus 로고
    • Clinical approach to inherited metabolic disorders in neonates: an overview
    • Saudubray J.M., Nassogne M.C., de Lonlay P., and Touati G. Clinical approach to inherited metabolic disorders in neonates: an overview. Semin Neonatol 7 (2002) 3-15
    • (2002) Semin Neonatol , vol.7 , pp. 3-15
    • Saudubray, J.M.1    Nassogne, M.C.2    de Lonlay, P.3    Touati, G.4
  • 17
    • 3042750480 scopus 로고    scopus 로고
    • Perimortem laboratory investigation of genetic metabolic disorders
    • Christodoulou J., and Wilcken B. Perimortem laboratory investigation of genetic metabolic disorders. Semin Neonatol 9 (2004) 275-280
    • (2004) Semin Neonatol , vol.9 , pp. 275-280
    • Christodoulou, J.1    Wilcken, B.2
  • 18
    • 0027168353 scopus 로고
    • Reproductive genetic testing from an international perspective: impact on women in underdeveloped countries
    • Penchaszadeh V.B. Reproductive genetic testing from an international perspective: impact on women in underdeveloped countries. Fetal Diagn Ther 8 (1993) 202-209
    • (1993) Fetal Diagn Ther , vol.8 , pp. 202-209
    • Penchaszadeh, V.B.1
  • 19
    • 41649106228 scopus 로고    scopus 로고
    • Activities of respiratory chain complexes and pyruvate dehydrogenase in isolated muscle mitochondria in premature neonates
    • Honzik T., Wenchich L., Böhm M., Hansikova H., Pejznochova M., Zapadlo M., et al. Activities of respiratory chain complexes and pyruvate dehydrogenase in isolated muscle mitochondria in premature neonates. Early Hum Dev 84 (2008) 269-276
    • (2008) Early Hum Dev , vol.84 , pp. 269-276
    • Honzik, T.1    Wenchich, L.2    Böhm, M.3    Hansikova, H.4    Pejznochova, M.5    Zapadlo, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.