-
1
-
-
34247150665
-
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 2007; 150: 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
-
2
-
-
38949188752
-
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
-
Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, et al. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat 2008; 29: 330-331.
-
(2008)
Hum Mutat
, vol.29
, pp. 330-331
-
-
Dimmock, D.P.1
Zhang, Q.2
Dionisi-Vici, C.3
Carrozzo, R.4
Shieh, J.5
Tang, L.Y.6
-
3
-
-
0036714964
-
Mitochondrial DNA depletion and dGK gene mutations
-
Salviati L, Sacconi S, Mancuso M, Otaegui D, Camaño P, Marina A, et al. Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol 2002; 52: 311-317.
-
(2002)
Ann Neurol
, vol.52
, pp. 311-317
-
-
Salviati, L.1
Sacconi, S.2
Mancuso, M.3
Otaegui, D.4
Camaño, P.5
Marina, A.6
-
4
-
-
31644436225
-
Pulmonary hypertension - A new manifestation of mitochondrial disease
-
Barclay AR, Sholler G, Christodolou J, Shun A, Arbuckle S, Dorney S, Stormon MO,. Pulmonary hypertension-a new manifestation of mitochondrial disease. J Inherit Metab Dis 2005; 28: 1081-1089.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 1081-1089
-
-
Barclay, A.R.1
Sholler, G.2
Christodolou, J.3
Shun, A.4
Arbuckle, S.5
Dorney, S.6
Stormon, M.O.7
-
5
-
-
33747188039
-
Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations
-
Freisinger P, Fütterer N, Lankes E, Gempel K, Berger TM, Spalinger J, et al. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Arch Neurol 2006; 63: 1129-1134.
-
(2006)
Arch Neurol
, vol.63
, pp. 1129-1134
-
-
Freisinger, P.1
Fütterer, N.2
Lankes, E.3
Gempel, K.4
Berger, T.M.5
Spalinger, J.6
-
6
-
-
0035183256
-
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
-
Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001; 29: 337-341.
-
(2001)
Nat Genet
, vol.29
, pp. 337-341
-
-
Mandel, H.1
Szargel, R.2
Labay, V.3
Elpeleg, O.4
Saada, A.5
Shalata, A.6
-
7
-
-
0031899233
-
Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplant in childhood
-
Thomson M, McKiernan P, Buckels J, Mayer D, Kelly D,. Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplant in childhood. J Pediatr Gastroenterol Nutr 1998; 26: 478-481.
-
(1998)
J Pediatr Gastroenterol Nutr
, vol.26
, pp. 478-481
-
-
Thomson, M.1
McKiernan, P.2
Buckels, J.3
Mayer, D.4
Kelly, D.5
-
8
-
-
34547678038
-
Liver failure in mitochondrial DNA depletion syndrome: The importance of serial neuroimaging in liver transplantation evaluation
-
deBruyn JC, Chan AK, Bhargava R, Idikio H, Huynh HQ,. Liver failure in mitochondrial DNA depletion syndrome: the importance of serial neuroimaging in liver transplantation evaluation. J Pediatr Gastroenterol Nutr 2007; 45: 252-256.
-
(2007)
J Pediatr Gastroenterol Nutr
, vol.45
, pp. 252-256
-
-
Debruyn, J.C.1
Chan, A.K.2
Bhargava, R.3
Idikio, H.4
Huynh, H.Q.5
-
9
-
-
0032722918
-
Liver transplantation in mitochondrial respiratory chain disorders
-
Sokal EM, Sokol R, Cormier V, Lacaille F, McKiernan P, Van Spronsen FJ, et al. Liver transplantation in mitochondrial respiratory chain disorders. Eur J Pediatr 1999; 158 (suppl 2): S81-S84.
-
(1999)
Eur J Pediatr
, vol.158
, Issue.SUPPL. 2
-
-
Sokal, E.M.1
Sokol, R.2
Cormier, V.3
Lacaille, F.4
McKiernan, P.5
Van Spronsen, F.J.6
-
10
-
-
57849144280
-
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency
-
Dimmock DP, Dunn JK, Feigenbaum A, Rupar A, Horvath R, Freisinger P, et al. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. Liver Transpl 2008; 14: 1480-1485.
-
(2008)
Liver Transpl
, vol.14
, pp. 1480-1485
-
-
Dimmock, D.P.1
Dunn, J.K.2
Feigenbaum, A.3
Rupar, A.4
Horvath, R.5
Freisinger, P.6
-
11
-
-
84862096153
-
Neonatal liver failure due to deoxyguanosine kinase deficiency
-
bcr1220115317.
-
Nobre S, Grazina M, Silva F, Pinto C, Gonçalves I, Diogo L,. Neonatal liver failure due to deoxyguanosine kinase deficiency. BMJ Case Rep 2012:bcr1220115317.
-
(2012)
BMJ Case Rep
-
-
Nobre, S.1
Grazina, M.2
Silva, F.3
Pinto, C.4
Gonçalves, I.5
Diogo, L.6
-
12
-
-
84870180452
-
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
-
Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, et al. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain 2012; 135 (pt 11): 3404-3415.
-
(2012)
Brain
, vol.135
, Issue.PART 11
, pp. 3404-3415
-
-
Ronchi, D.1
Garone, C.2
Bordoni, A.3
Gutierrez Rios, P.4
Calvo, S.E.5
Ripolone, M.6
-
13
-
-
84897112102
-
Mitochondrial respiratory chain hepatopathies: Role of liver transplantation. A case series of five patients
-
De Greef E, Christodoulou J, Alexander IE, Shun A, O'Loughlin EV, Thorburn DR, et al. Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients. JIMD Rep 2012; 4: 5-11.
-
(2012)
JIMD Rep
, vol.4
, pp. 5-11
-
-
De Greef, E.1
Christodoulou, J.2
Alexander, I.E.3
Shun, A.4
O'Loughlin, E.V.5
Thorburn, D.R.6
-
14
-
-
19944416258
-
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria
-
Tadiboyina VT, Rupar A, Atkison P, Feigenbaum A, Kronick J, Wang J, Hegele RA,. Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. Am J Med Genet A 2005; 135: 289-291.
-
(2005)
Am J Med Genet A
, vol.135
, pp. 289-291
-
-
Tadiboyina, V.T.1
Rupar, A.2
Atkison, P.3
Feigenbaum, A.4
Kronick, J.5
Wang, J.6
Hegele, R.A.7
-
15
-
-
18544364815
-
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
-
Mancuso M, Ferraris S, Pancrudo J, Feigenbaum A, Raiman J, Christodoulou J, et al. New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. Arch Neurol 2005; 62: 745-747.
-
(2005)
Arch Neurol
, vol.62
, pp. 745-747
-
-
Mancuso, M.1
Ferraris, S.2
Pancrudo, J.3
Feigenbaum, A.4
Raiman, J.5
Christodoulou, J.6
-
16
-
-
29144450699
-
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement
-
Slama A, Giurgea I, Debrey D, Bridoux D, de Lonlay P, Levy P, et al. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement. Mol Genet Metab 2005; 86: 462-465.
-
(2005)
Mol Genet Metab
, vol.86
, pp. 462-465
-
-
Slama, A.1
Giurgea, I.2
Debrey, D.3
Bridoux, D.4
De Lonlay, P.5
Levy, P.6
-
17
-
-
6044243733
-
Hepatocerebral mitochondrial DNA depletion syndrome: Clinical and morphologic features of a nuclear gene mutation
-
Rabinowitz SS, Gelfond D, Chen CK, Gloster ES, Whitington PF, Sacconi S, et al. Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation. J Pediatr Gastroenterol Nutr 2004; 38: 216-220.
-
(2004)
J Pediatr Gastroenterol Nutr
, vol.38
, pp. 216-220
-
-
Rabinowitz, S.S.1
Gelfond, D.2
Chen, C.K.3
Gloster, E.S.4
Whitington, P.F.5
Sacconi, S.6
-
18
-
-
3943105518
-
Short- and long-term results of liver transplantation in infants aged less than 6 months
-
Grabhorn E, Schulz A, Helmke K, Hinrichs B, Rogiers X, Broering DC, et al. Short- and long-term results of liver transplantation in infants aged less than 6 months. Transplantation 2004; 78: 235-241.
-
(2004)
Transplantation
, vol.78
, pp. 235-241
-
-
Grabhorn, E.1
Schulz, A.2
Helmke, K.3
Hinrichs, B.4
Rogiers, X.5
Broering, D.C.6
-
19
-
-
34250302680
-
Mitochondrial hepatopathies: Advances in genetics and pathogenesis
-
Lee WS, Sokol RJ,. Mitochondrial hepatopathies: advances in genetics and pathogenesis. Hepatology 2007; 45: 1555-1565.
-
(2007)
Hepatology
, vol.45
, pp. 1555-1565
-
-
Lee, W.S.1
Sokol, R.J.2
-
20
-
-
0035868295
-
Orthotopic liver transplantation for mitochondrial respiratory chain disorders: A study of 5 children
-
Dubern B, Broue P, Dubuisson C, Cormier-Daire V, Habes D, Chardot C, et al. Orthotopic liver transplantation for mitochondrial respiratory chain disorders: a study of 5 children. Transplantation 2001; 71: 633-637.
-
(2001)
Transplantation
, vol.71
, pp. 633-637
-
-
Dubern, B.1
Broue, P.2
Dubuisson, C.3
Cormier-Daire, V.4
Habes, D.5
Chardot, C.6
-
21
-
-
84880227427
-
Gastrointestinal and hepatic manifestations of mitochondrial disorders
-
Rahman S,. Gastrointestinal and hepatic manifestations of mitochondrial disorders. J Inherit Metab Dis 2013; 36: 659-673.
-
(2013)
J Inherit Metab Dis
, vol.36
, pp. 659-673
-
-
Rahman, S.1
-
22
-
-
80955133245
-
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins
-
Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, et al. A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Am J Hum Genet 2011; 89: 656-667.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 656-667
-
-
Navarro-Sastre, A.1
Tort, F.2
Stehling, O.3
Uzarska, M.A.4
Arranz, J.A.5
Del Toro, M.6
-
23
-
-
79953874227
-
High prevalence of renal dysfunction in children after liver transplantation: Non-invasive diagnosis using a cystatin C-based equation
-
Brinkert F, Kemper MJ, Briem-Richter A, van Husen M, Treszl A, Ganschow R,. High prevalence of renal dysfunction in children after liver transplantation: non-invasive diagnosis using a cystatin C-based equation. Nephrol Dial Transplant 2011; 26: 1407-1412.
-
(2011)
Nephrol Dial Transplant
, vol.26
, pp. 1407-1412
-
-
Brinkert, F.1
Kemper, M.J.2
Briem-Richter, A.3
Van Husen, M.4
Treszl, A.5
Ganschow, R.6
-
24
-
-
0026015896
-
MtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
-
Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, et al. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991; 48: 492-501.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 492-501
-
-
Moraes, C.T.1
Shanske, S.2
Tritschler, H.J.3
Aprille, J.R.4
Andreetta, F.5
Bonilla, E.6
-
25
-
-
67651040573
-
Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure
-
Shieh JT, Berquist WE, Zhang Q, Chou PC, Wong LJ, Enns GM,. Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure. J Pediatr Gastroenterol Nutr 2009; 49: 130-132.
-
(2009)
J Pediatr Gastroenterol Nutr
, vol.49
, pp. 130-132
-
-
Shieh, J.T.1
Berquist, W.E.2
Zhang, Q.3
Chou, P.C.4
Wong, L.J.5
Enns, G.M.6
-
26
-
-
33747032310
-
Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency
-
Knisely AS, Strautnieks SS, Meier Y, Stieger B, Byrne JA, Portmann BC, et al. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology 2006; 44: 478-486.
-
(2006)
Hepatology
, vol.44
, pp. 478-486
-
-
Knisely, A.S.1
Strautnieks, S.S.2
Meier, Y.3
Stieger, B.4
Byrne, J.A.5
Portmann, B.C.6
-
27
-
-
33947575032
-
Does oxidative stress participate in the development of hepatocellular carcinoma?
-
Sasaki Y,. Does oxidative stress participate in the development of hepatocellular carcinoma? J Gastroenterol 2006; 41: 1135-1148.
-
(2006)
J Gastroenterol
, vol.41
, pp. 1135-1148
-
-
Sasaki, Y.1
-
28
-
-
21844449982
-
Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency
-
Labarthe F, Dobbelaere D, Devisme L, De Muret A, Jardel C, Taanman JW, et al. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency. J Hepatol 2005; 43: 333-341.
-
(2005)
J Hepatol
, vol.43
, pp. 333-341
-
-
Labarthe, F.1
Dobbelaere, D.2
Devisme, L.3
De Muret, A.4
Jardel, C.5
Taanman, J.W.6
-
29
-
-
0025943574
-
Liver transplantation in children from living related donors. Surgical techniques and results
-
Broelsch CE, Whitington PF, Emond JC, Heffron TG, Thistlethwaite JR, Stevens L, et al. Liver transplantation in children from living related donors. Surgical techniques and results. Ann Surg 1991; 214: 428-437.
-
(1991)
Ann Surg
, vol.214
, pp. 428-437
-
-
Broelsch, C.E.1
Whitington, P.F.2
Emond, J.C.3
Heffron, T.G.4
Thistlethwaite, J.R.5
Stevens, L.6
-
30
-
-
84897107915
-
DGUOK-related mitochondrial DNA depletion syndrome, hepatocerebral form
-
Pagon R.A. Adam M.P. Bird T.D. Dolan C.R. Fong C.T. Smith R.J.H. Stephens K. eds. WA: University of Washington.
-
Scaglia F, Dimmock D, Wong LJ,. DGUOK-related mitochondrial DNA depletion syndrome, hepatocerebral form. In:, Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, eds. GeneReviews. Seattle, WA: University of Washington; 1993-2014.
-
GeneReviews. Seattle
, pp. 1993-2014
-
-
Scaglia, F.1
Dimmock, D.2
Wong, L.J.3
|