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Volumn 49, Issue 1, 2009, Pages 130-132

Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; AMMONIA; ASPARTATE AMINOTRANSFERASE; DEOXYGUANOSINE KINASE; FIBRINOGEN;

EID: 67651040573     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e31819de7a6     Document Type: Article
Times cited : (7)

References (11)
  • 1
    • 0036308667 scopus 로고    scopus 로고
    • Pediatric liver disease in the United States: Epidemiology and impact
    • Arya G, Balistreri WF. Pediatric liver disease in the United States: epidemiology and impact. J Gastroenterol Hepatol 2002;17:521-5.
    • (2002) J Gastroenterol Hepatol , vol.17 , pp. 521-525
    • Arya, G.1    Balistreri, W.F.2
  • 2
    • 0029870465 scopus 로고    scopus 로고
    • Expanding spectrum of mitochondrial disorders
    • Sokol RJ. Expanding spectrum of mitochondrial disorders. J Pediatr 1996;128 (5 Pt 1): 597-9.
    • (1996) J Pediatr , vol.128 , Issue.5 PART 1 , pp. 597-599
    • Sokol, R.J.1
  • 3
    • 0035183256 scopus 로고    scopus 로고
    • The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
    • Mandel H, Szargel R, Labay V, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001;29:337-41.
    • (2001) Nat Genet , vol.29 , pp. 337-341
    • Mandel, H.1    Szargel, R.2    Labay, V.3
  • 4
    • 33747188039 scopus 로고    scopus 로고
    • Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations
    • Freisinger P, Futterer N, Lankes E, et al. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Arch Neurol 2006;63:1129-34.
    • (2006) Arch Neurol , vol.63 , pp. 1129-1134
    • Freisinger, P.1    Futterer, N.2    Lankes, E.3
  • 5
    • 18544364815 scopus 로고    scopus 로고
    • New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
    • MancusoM, Ferraris S, Pancrudo J, et al. New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. Arch Neurol 2005;62:745-7.
    • (2005) Arch Neurol , vol.62 , pp. 745-747
    • Mancuso, M.1    Ferraris, S.2    Pancrudo, J.3
  • 6
    • 27744530170 scopus 로고    scopus 로고
    • Simultaneous detection and quantification of mitochondrial DNA deletion (s), depletion, and over-replication in patients with mitochondrial disease
    • Bai RK, Wong LJ. Simultaneous detection and quantification of mitochondrial DNA deletion (s), depletion, and over-replication in patients with mitochondrial disease. J Mol Diagn 2005;7:613-22.
    • (2005) J Mol Diagn , vol.7 , pp. 613-622
    • Bai, R.K.1    Wong, L.J.2
  • 7
    • 33646376465 scopus 로고    scopus 로고
    • MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
    • Spinazzola A, Viscomi C, Fernandez-Vizarra E, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006;38:570-5.
    • (2006) Nat Genet , vol.38 , pp. 570-575
    • Spinazzola, A.1    Viscomi, C.2    Fernandez-Vizarra, E.3
  • 8
    • 34247150665 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood
    • 534 e1-534 e16
    • Sarzi E, Bourdon A, Chretien D, et al. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr 2007;150:531-4. 534 e1-534 e16..
    • (2007) J Pediatr , vol.150 , pp. 531-534
    • Sarzi, E.1    Bourdon, A.2    Chretien, D.3
  • 9
    • 19944416258 scopus 로고    scopus 로고
    • Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria
    • Tadiboyina VT, Rupar A, Atkison P, et al. Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. Am J Med Genet A 2005;135:289-91.
    • (2005) Am J Med Genet A , vol.135 , pp. 289-291
    • Tadiboyina, V.T.1    Rupar, A.2    Atkison, P.3
  • 10
    • 0036714964 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion and dGK gene mutations
    • Salviati L, Sacconi S, Mancuso M, et al. Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol 2002;52: 311-7.
    • (2002) Ann Neurol , vol.52 , pp. 311-317
    • Salviati, L.1    Sacconi, S.2    Mancuso, M.3
  • 11
    • 34547678038 scopus 로고    scopus 로고
    • Liver failure in mitochondrial DNA depletion syndrome: The importance of serial neuroimaging in liver transplantation evaluation
    • deBruyn JC, Chan AK, Bhargava R, et al. Liver failure in mitochondrial DNA depletion syndrome: the importance of serial neuroimaging in liver transplantation evaluation. J Pediatr Gastroenterol Nutr 2007;45:252-6.
    • (2007) J Pediatr Gastroenterol Nutr , vol.45 , pp. 252-256
    • deBruyn, J.C.1    Chan, A.K.2    Bhargava, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.