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For: Dimmock DP, Dunn JK, Feigenbaum A, Rupar A, Horvath R, Freisinger P, Mousson de Camaret B, Wong L, Scaglia F. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency: Predictors of Survival in DGUOK Deficiency. Liver Transpl 2008;14:1480-5. [DOI: 10.1002/lt.21556] [Cited by in Crossref: 52] [Cited by in F6Publishing: 46] [Article Influence: 3.7] [Reference Citation Analysis]
Number Citing Articles
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5 Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med 2017;19. [PMID: 28749475 DOI: 10.1038/gim.2017.107] [Cited by in Crossref: 76] [Cited by in F6Publishing: 66] [Article Influence: 15.2] [Reference Citation Analysis]
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11 Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain 2012;135:3404-15. [PMID: 23043144 DOI: 10.1093/brain/aws258] [Cited by in Crossref: 64] [Cited by in F6Publishing: 56] [Article Influence: 6.4] [Reference Citation Analysis]
12 Gopan A, Sarma MS. Mitochondrial hepatopathy: Respiratory chain disorders- ‘breathing in and out of the liver’. World J Hepatol 2021; 13(11): 1707-1726 [PMID: 34904040 DOI: 10.4254/wjh.v13.i11.1707] [Reference Citation Analysis]
13 Scaglia F. Nuclear Gene Defects in Mitochondrial Disorders. In: Wong, Ph.d. LC, editor. Mitochondrial Disorders. Totowa: Humana Press; 2012. pp. 17-34. [DOI: 10.1007/978-1-61779-504-6_2] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 0.7] [Reference Citation Analysis]
14 Marie S, van den Berghe G, Vincent M. Disorders of Purine and Pyrimidine Metabolism. In: Saudubray J, Baumgartner MR, Walter J, editors. Inborn Metabolic Diseases. Berlin: Springer Berlin Heidelberg; 2016. pp. 495-513. [DOI: 10.1007/978-3-662-49771-5_35] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
15 Haudry C, de Lonlay P, Malan V, Bole-Feysot C, Assouline Z, Pruvost S, Brassier A, Bonnefont JP, Munnich A, Rötig A, Lebre AS. Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Mol Genet Metab 2012;107:700-4. [PMID: 23141463 DOI: 10.1016/j.ymgme.2012.10.008] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 0.9] [Reference Citation Analysis]
16 Lane M, Boczonadi V, Bachtari S, Gomez-Duran A, Langer T, Griffiths A, Kleinle S, Dineiger C, Abicht A, Holinski-Feder E, Schara U, Gerner P, Horvath R. Mitochondrial dysfunction in liver failure requiring transplantation. J Inherit Metab Dis. 2016;39:427-436. [PMID: 27053192 DOI: 10.1007/s10545-016-9927-z] [Cited by in Crossref: 21] [Cited by in F6Publishing: 19] [Article Influence: 3.5] [Reference Citation Analysis]
17 Jing R, Corbett JL, Cai J, Beeson GC, Beeson CC, Chan SS, Dimmock DP, Lazcares L, Geurts AM, Lemasters JJ, Duncan SA. A Screen Using iPSC-Derived Hepatocytes Reveals NAD+ as a Potential Treatment for mtDNA Depletion Syndrome. Cell Rep 2018;25:1469-1484.e5. [PMID: 30404003 DOI: 10.1016/j.celrep.2018.10.036] [Cited by in Crossref: 22] [Cited by in F6Publishing: 21] [Article Influence: 7.3] [Reference Citation Analysis]
18 Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, Mcfarland R, Scaglia F. Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Molecular Genetics and Metabolism 2016;118:178-84. [DOI: 10.1016/j.ymgme.2016.04.009] [Cited by in Crossref: 33] [Cited by in F6Publishing: 25] [Article Influence: 5.5] [Reference Citation Analysis]
19 Bennett B, Helbling D, Meng H, Jarzembowski J, Geurts AM, Friederich MW, Van Hove JLK, Lawlor MW, Dimmock DP. Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome. Free Radic Biol Med 2016;92:141-51. [PMID: 26773591 DOI: 10.1016/j.freeradbiomed.2016.01.001] [Cited by in Crossref: 13] [Cited by in F6Publishing: 13] [Article Influence: 2.2] [Reference Citation Analysis]
20 Grabhorn E, Tsiakas K, Herden U, Fischer L, Freisinger P, Marquardt T, Ganschow R, Briem-Richter A, Santer R. Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature. Liver Transpl 2014;20:464-72. [PMID: 24478274 DOI: 10.1002/lt.23830] [Cited by in Crossref: 28] [Cited by in F6Publishing: 22] [Article Influence: 3.5] [Reference Citation Analysis]
21 Goh V, Helbling D, Biank V, Jarzembowski J, Dimmock D. Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure. J Pediatr Gastroenterol Nutr 2012;54:291-4. [PMID: 21681116 DOI: 10.1097/MPG.0b013e318227e53c] [Cited by in Crossref: 36] [Cited by in F6Publishing: 20] [Article Influence: 3.6] [Reference Citation Analysis]
22 Cwerman-Thibault H, Sahel JA, Corral-Debrinski M. Mitochondrial medicine: to a new era of gene therapy for mitochondrial DNA mutations. J Inherit Metab Dis 2011;34:327-44. [PMID: 20571866 DOI: 10.1007/s10545-010-9131-5] [Cited by in Crossref: 23] [Cited by in F6Publishing: 22] [Article Influence: 1.9] [Reference Citation Analysis]
23 Schiff M, Bénit P, Jacobs HT, Vockley J, Rustin P. Therapies in inborn errors of oxidative metabolism. Trends Endocrinol Metab 2012;23:488-95. [PMID: 22633959 DOI: 10.1016/j.tem.2012.04.006] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 1.4] [Reference Citation Analysis]
24 Jankowska I, Czubkowski P, Rokicki D, Lipiński P, Piekutowska-Abramczuk D, Ciara E, Płoski R, Kaliciński P, Szymczak M, Pawłowska J, Socha P. Acute liver failure due to DGUOK deficiency-is liver transplantation justified? Clin Res Hepatol Gastroenterol 2021;45:101408. [PMID: 32278775 DOI: 10.1016/j.clinre.2020.02.018] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
25 Squires RH, Ng V, Romero R, Ekong U, Hardikar W, Emre S, Mazariegos GV. Evaluation of the pediatric patient for liver transplantation: 2014 practice guideline by the American Association for the Study of Liver Diseases, American Society of Transplantation and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. Hepatology. 2014;60:362-398. [PMID: 24782219 DOI: 10.1002/hep.27191] [Cited by in Crossref: 101] [Cited by in F6Publishing: 77] [Article Influence: 12.6] [Reference Citation Analysis]
26 Panayiotou C, Solaroli N, Karlsson A. The many isoforms of human adenylate kinases. Int J Biochem Cell Biol 2014;49:75-83. [PMID: 24495878 DOI: 10.1016/j.biocel.2014.01.014] [Cited by in Crossref: 62] [Cited by in F6Publishing: 59] [Article Influence: 7.8] [Reference Citation Analysis]
27 Poulton J, Holt IJ. 163rd ENMC International Workshop: nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12-14 December 2008, Naarden, The Netherlands. Neuromuscul Disord 2009;19:439-43. [PMID: 19464176 DOI: 10.1016/j.nmd.2009.04.009] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 0.8] [Reference Citation Analysis]
28 Hanchard NA, Shchelochkov OA, Roy A, Wiszniewska J, Wang J, Popek EJ, Karpen S, Wong LC, Scaglia F. Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. Molecular Genetics and Metabolism 2011;103:262-7. [DOI: 10.1016/j.ymgme.2011.03.006] [Cited by in Crossref: 25] [Cited by in F6Publishing: 21] [Article Influence: 2.3] [Reference Citation Analysis]
29 Corbett JL, Duncan SA. iPSC-Derived Hepatocytes as a Platform for Disease Modeling and Drug Discovery. Front Med (Lausanne) 2019;6:265. [PMID: 31803747 DOI: 10.3389/fmed.2019.00265] [Cited by in Crossref: 35] [Cited by in F6Publishing: 31] [Article Influence: 11.7] [Reference Citation Analysis]
30 Almannai M, El-Hattab AW, Ali M, Soler-Alfonso C, Scaglia F. Clinical trials in mitochondrial disorders, an update. Mol Genet Metab 2020;131:1-13. [PMID: 33129691 DOI: 10.1016/j.ymgme.2020.10.002] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 3.5] [Reference Citation Analysis]
31 Sezer T, Ozçay F, Balci O, Alehan F. Novel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome. J Child Neurol 2015;30:124-8. [DOI: 10.1177/0883073813517000] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 1.1] [Reference Citation Analysis]
32 Uziel G, Ghezzi D, Zeviani M. Infantile mitochondrial encephalopathy. Semin Fetal Neonatal Med. 2011;16:205-215. [PMID: 21620787 DOI: 10.1016/j.siny.2011.04.003] [Cited by in Crossref: 24] [Cited by in F6Publishing: 18] [Article Influence: 2.2] [Reference Citation Analysis]
33 Erez A, Shchelochkov OA, Plon SE, Scaglia F, Lee B. Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet 2011;88:402-21. [PMID: 21473982 DOI: 10.1016/j.ajhg.2011.03.005] [Cited by in Crossref: 34] [Cited by in F6Publishing: 27] [Article Influence: 3.1] [Reference Citation Analysis]
34 Nobre S, Grazina M, Silva F, Pinto C, Gonçalves I, Diogo L. Neonatal liver failure due to deoxyguanosine kinase deficiency. BMJ Case Rep 2012;2012:bcr1220115317. [PMID: 22602837 DOI: 10.1136/bcr.12.2011.5317] [Cited by in Crossref: 20] [Cited by in F6Publishing: 16] [Article Influence: 2.0] [Reference Citation Analysis]
35 Erez A, Shchelochkov OA, Plon SE, Scaglia F, Lee B. Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet. 2011;88:402-421. [PMID: 21473982 DOI: 10.1016/j.ajhg.2011.03.005.] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
36 Lee WS, Sokol RJ. Mitochondrial hepatopathies: advances in genetics, therapeutic approaches, and outcomes. J Pediatr 2013;163:942-8. [PMID: 23810725 DOI: 10.1016/j.jpeds.2013.05.036] [Cited by in Crossref: 35] [Cited by in F6Publishing: 20] [Article Influence: 3.9] [Reference Citation Analysis]
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40 Tischner C, Wenz T. Keep the fire burning: Current avenues in the quest of treating mitochondrial disorders. Mitochondrion 2015;24:32-49. [DOI: 10.1016/j.mito.2015.06.002] [Cited by in Crossref: 9] [Cited by in F6Publishing: 10] [Article Influence: 1.3] [Reference Citation Analysis]
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44 Rahman S. Gastrointestinal and hepatic manifestations of mitochondrial disorders. J Inherit Metab Dis. 2013;36:659-673. [PMID: 23674168 DOI: 10.1007/s10545-013-9614-2] [Cited by in Crossref: 36] [Cited by in F6Publishing: 24] [Article Influence: 4.0] [Reference Citation Analysis]
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46 Waich S, Roscher A, Brunner-krainz M, Cortina G, Köstl G, Feichtinger RG, Entenmann A, Müller T, Knisely A, Mayr JA, Janecke AR, Vodopiutz J. Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series. Journal of Pediatric Gastroenterology & Nutrition 2019;68:e1-6. [DOI: 10.1097/mpg.0000000000002149] [Cited by in Crossref: 4] [Article Influence: 1.3] [Reference Citation Analysis]