149 related articles for article (PubMed ID: 14734888)
21. DGUOK-related mitochondrial DNA depletion syndrome in a child with an early diagnosis of glycogen storage disease.
Kasapkara CS; Tümer L; Küçükçongar A; Hasanoğlu A; Seneca S; De Meirleir L
J Pediatr Gastroenterol Nutr; 2013 Nov; 57(5):e28-9. PubMed ID: 22868686
[No Abstract] [Full Text] [Related]
22. Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation.
Lee NC; Dimmock D; Hwu WL; Tang LY; Huang WC; Chinault AC; Wong LJ
Arch Dis Child; 2009 Jan; 94(1):55-8. PubMed ID: 19103789
[TBL] [Abstract][Full Text] [Related]
23. Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.
Mahjoub G; Habibzadeh P; Dastsooz H; Mirzaei M; Kavosi A; Jamali L; Javanmardi H; Katibeh P; Faghihi MA; Dastgheib SA
BMC Med Genet; 2019 Oct; 20(1):167. PubMed ID: 31664948
[TBL] [Abstract][Full Text] [Related]
24. A Child With Ichthyosis and Liver Failure.
Indolfi G; Iascone M; Remaschi G; Donati MA; Nesti C; Rubegni A; Pezzoli L; Buccoliero AM; Santorelli FM; Resti M
J Pediatr Gastroenterol Nutr; 2017 Sep; 65(3):e70-e73. PubMed ID: 28562522
[No Abstract] [Full Text] [Related]
25. Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.
Mancuso M; Filosto M; Tsujino S; Lamperti C; Shanske S; Coquet M; Desnuelle C; DiMauro S
Arch Neurol; 2003 Oct; 60(10):1445-7. PubMed ID: 14568816
[TBL] [Abstract][Full Text] [Related]
26. Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome.
Wang L; Eriksson S
FEBS Lett; 2003 Nov; 554(3):319-22. PubMed ID: 14623087
[TBL] [Abstract][Full Text] [Related]
27. 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; Ranieri M; Rizzuti M; Villa L; Magri F; Corti S; Bresolin N; Mootha VK; Moggio M; DiMauro S; Comi GP; Sciacco M
Brain; 2012 Nov; 135(Pt 11):3404-15. PubMed ID: 23043144
[TBL] [Abstract][Full Text] [Related]
28. The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.
Doğulu N; Tuna Kırsaçlıoğlu C; Köse E; Ünlüsoy Aksu A; Kuloğlu Z; Kansu A; Eminoğlu FT
J Pediatr Endocrinol Metab; 2021 Oct; 34(10):1341-1347. PubMed ID: 34167177
[TBL] [Abstract][Full Text] [Related]
29. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.
Coenen MJ; Antonicka H; Ugalde C; Sasarman F; Rossi R; Heister JG; Newbold RF; Trijbels FJ; van den Heuvel LP; Shoubridge EA; Smeitink JA
N Engl J Med; 2004 Nov; 351(20):2080-6. PubMed ID: 15537906
[TBL] [Abstract][Full Text] [Related]
30. [Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome].
Deng M; Lin WX; Guo L; Zhang ZH; Song YZ
Zhongguo Dang Dai Er Ke Za Zhi; 2016 Jun; 18(6):545-50. PubMed ID: 27324545
[TBL] [Abstract][Full Text] [Related]
31. Deoxyguanosine kinase deficiency: a report of four patients.
Ünal Ö; Hişmi B; Kılıç M; Gülşen HH; Coşkun T; Sivri SH; Dursun A; Yüce A; Tokatlı A
J Pediatr Endocrinol Metab; 2017 May; 30(6):697-702. PubMed ID: 28493820
[TBL] [Abstract][Full Text] [Related]
32. Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts.
Taanman JW; Muddle JR; Muntau AC
Hum Mol Genet; 2003 Aug; 12(15):1839-45. PubMed ID: 12874104
[TBL] [Abstract][Full Text] [Related]
33. Mitochondrial hepatopathies: advances in genetics, therapeutic approaches, and outcomes.
Lee WS; Sokol RJ
J Pediatr; 2013 Oct; 163(4):942-8. PubMed ID: 23810725
[No Abstract] [Full Text] [Related]
34. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.
McFarland R; Clark KM; Morris AA; Taylor RW; Macphail S; Lightowlers RN; Turnbull DM
Nat Genet; 2002 Feb; 30(2):145-6. PubMed ID: 11799391
[TBL] [Abstract][Full Text] [Related]
35. Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.
Randolph LM; Jackson HA; Wang J; Shimada H; Sanchez-Lara PA; Wong DA; Wong LJ; Boles RG
Mol Genet Metab; 2011 Feb; 102(2):149-52. PubMed ID: 21093335
[TBL] [Abstract][Full Text] [Related]
36. Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction.
Bortot B; Barbi E; Biffi S; Lunazzi G; Bussani R; Burlina A; Norbedo S; Ventura A; Carrozzi M; Severini GM
Dig Liver Dis; 2009 Jul; 41(7):494-9. PubMed ID: 19195941
[TBL] [Abstract][Full Text] [Related]
37. 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; Chretien D; Brivet M; Legrand A; Rustin P; Munnich A; Rötig A
Mol Genet Metab; 2005 Dec; 86(4):462-5. PubMed ID: 16263314
[TBL] [Abstract][Full Text] [Related]
38. Mitochondrial DNA depletion syndrome causing liver failure.
Bijarnia-Mahay S; Mohan N; Goyal D; Verma IC
Indian Pediatr; 2014 Aug; 51(8):666-8. PubMed ID: 25129007
[TBL] [Abstract][Full Text] [Related]
39. Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.
Montassir H; Maegaki Y; Murayama K; Yamazaki T; Kohda M; Ohtake A; Iwasa H; Yatsuka Y; Okazaki Y; Sugiura C; Nagata I; Toyoshima M; Saito Y; Itoh M; Nishino I; Ohno K
Brain Dev; 2015 Aug; 37(7):719-24. PubMed ID: 25466440
[TBL] [Abstract][Full Text] [Related]
40. Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.
Waich S; Roscher A; Brunner-Krainz M; Cortina G; Köstl G; Feichtinger RG; Entenmann A; Müller T; Knisely AS; Mayr JA; Janecke AR; Vodopiutz J
J Pediatr Gastroenterol Nutr; 2019 Jan; 68(1):e1-e6. PubMed ID: 30589726
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]