These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

134 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.