-
1
-
-
0036308667
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|