BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

139 related articles for article (PubMed ID: 19103785)

  • 1. Diagnosis of mitochondrial DNA depletion syndromes.
    Rahman S; Poulton J
    Arch Dis Child; 2009 Jan; 94(1):3-5. PubMed ID: 19103785
    [No Abstract]   [Full Text] [Related]  

  • 2. 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; Salviati L; DiMauro S
    J Pediatr Gastroenterol Nutr; 2004 Feb; 38(2):216-20. PubMed ID: 14734888
    [No Abstract]   [Full Text] [Related]  

  • 3. Depletion of mtDNA: syndromes and genes.
    Alberio S; Mineri R; Tiranti V; Zeviani M
    Mitochondrion; 2007; 7(1-2):6-12. PubMed ID: 17280874
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Mitochondrial disease and mitochondrial DNA depletion syndromes].
    Huang CC; Hsu CH
    Acta Neurol Taiwan; 2009 Dec; 18(4):287-95. PubMed ID: 20329599
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; Gottrand F; Lombès A
    J Hepatol; 2005 Aug; 43(2):333-41. PubMed ID: 15964659
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Rare variant of unknown significance in POLG1 and diagnostic dilemma.
    Prasun P
    J Neurol; 2014 Nov; 261(11):2218-20. PubMed ID: 25209855
    [No Abstract]   [Full Text] [Related]  

  • 7. [Mitochondrial pathology linked to the disruption of mtDNA biosynthesis].
    Slama A
    Ann Biol Clin (Paris); 2006; 64(6):586-8. PubMed ID: 17256237
    [No Abstract]   [Full Text] [Related]  

  • 8. Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
    Navarro-Sastre A; Tort F; Garcia-Villoria J; Pons MR; Nascimento A; Colomer J; Campistol J; Yoldi ME; López-Gallardo E; Montoya J; Unceta M; Martinez MJ; Briones P; Ribes A
    Mol Genet Metab; 2012 Nov; 107(3):409-15. PubMed ID: 22980518
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.
    Zhang L; Chan SS; Wolff DJ
    Arch Pathol Lab Med; 2011 Jul; 135(7):925-34. PubMed ID: 21732785
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
    Al-Hussaini A; Faqeih E; El-Hattab AW; Alfadhel M; Asery A; Alsaleem B; Bakhsh E; Ali A; Alasmari A; Lone K; Nahari A; Eyaid W; Al Balwi M; Craig K; Butterworth A; He L; Taylor RW
    J Pediatr; 2014 Mar; 164(3):553-9.e1-2. PubMed ID: 24321534
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
    Elpeleg O; Mandel H; Saada A
    J Mol Med (Berl); 2002 Jul; 80(7):389-96. PubMed ID: 12110944
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.
    Kiliç M; Sivri HS; Dursun A; Tokatli A; De Meirleir L; Seneca S; Akçören Z; Yiğit S; Topaloğlu H; Coşkun T
    Turk J Pediatr; 2011; 53(1):79-82. PubMed ID: 21534344
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Human mitochondrial DNA replication machinery and disease.
    Young MJ; Copeland WC
    Curr Opin Genet Dev; 2016 Jun; 38():52-62. PubMed ID: 27065468
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    Am J Med Genet A; 2005 Jun; 135(3):289-91. PubMed ID: 15887277
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Novel deoxyguanosine kinase gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
    Sezer T; Ozçay F; Balci O; Alehan F
    J Child Neurol; 2015 Jan; 30(1):124-8. PubMed ID: 24423689
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Neonatal liver failure due to deoxyguanosine kinase deficiency.
    Nobre S; Grazina M; Silva F; Pinto C; Gonçalves I; Diogo L
    BMJ Case Rep; 2012 Apr; 2012():. PubMed ID: 22602837
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
    Freisinger P; Fütterer N; Lankes E; Gempel K; Berger TM; Spalinger J; Hoerbe A; Schwantes C; Lindner M; Santer R; Burdelski M; Schaefer H; Setzer B; Walker UA; Horváth R
    Arch Neurol; 2006 Aug; 63(8):1129-34. PubMed ID: 16908739
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.