BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

199 related articles for article (PubMed ID: 27482763)

  • 1. Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.
    McKiernan P; Ball S; Santra S; Foster K; Fratter C; Poulton J; Craig K; McFarland R; Rahman S; Hargreaves I; Gupte G; Sharif K; Taylor RW
    J Pediatr Gastroenterol Nutr; 2016 Dec; 63(6):592-597. PubMed ID: 27482763
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
    Varma H; Faust PL; Iglesias AD; Lagana SM; Wou K; Hirano M; DiMauro S; Mansukani MM; Hoff KE; Nagy PL; Copeland WC; Naini AB
    Eur J Med Genet; 2016 Oct; 59(10):540-5. PubMed ID: 27592148
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience.
    Vara R; Pinon M; Fratter C; Hegarty R; Hadzic N
    J Inherit Metab Dis; 2023 Jul; 46(4):634-648. PubMed ID: 37204315
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.
    Helbling D; Buchaklian A; Wang J; Wong LJ; Dimmock D
    J Pediatr Gastroenterol Nutr; 2013 Oct; 57(4):438-43. PubMed ID: 23783014
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
    Uusimaa J; Evans J; Smith C; Butterworth A; Craig K; Ashley N; Liao C; Carver J; Diot A; Macleod L; Hargreaves I; Al-Hussaini A; Faqeih E; Asery A; Al Balwi M; Eyaid W; Al-Sunaid A; Kelly D; van Mourik I; Ball S; Jarvis J; Mulay A; Hadzic N; Samyn M; Baker A; Rahman S; Stewart H; Morris AA; Seller A; Fratter C; Taylor RW; Poulton J
    Eur J Hum Genet; 2014 Feb; 22(2):184-91. PubMed ID: 23714749
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Quantitative evaluation of the mitochondrial DNA depletion syndrome.
    Dimmock D; Tang LY; Schmitt ES; Wong LJ
    Clin Chem; 2010 Jul; 56(7):1119-27. PubMed ID: 20448188
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.
    Cámara Y; González-Vioque E; Scarpelli M; Torres-Torronteras J; Caballero A; Hirano M; Martí R
    Hum Mol Genet; 2014 May; 23(9):2459-67. PubMed ID: 24362886
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Outcomes of liver transplantation for mitochondrial respiratory chain disorder in children.
    Uchida H; Sakamoto S; Shimizu S; Yanagi Y; Fukuda A; Horikawa R; Ito R; Matsunaga A; Murayama K; Kasahara M
    Pediatr Transplant; 2021 Dec; 25(8):e14091. PubMed ID: 34265160
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis.
    Pronicki M; Piekutowska-Abramczuk D; Rokicki D; Iwanicka-Pronicka K; Grajkowska W
    Pol J Pathol; 2018; 69(3):292-298. PubMed ID: 30509056
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.
    Cohen BH; Naviaux RK
    Methods; 2010 Aug; 51(4):364-73. PubMed ID: 20558295
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.
    El-Hattab AW; Scaglia F
    Neurotherapeutics; 2013 Apr; 10(2):186-98. PubMed ID: 23385875
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.
    Shimura M; Kuranobu N; Ogawa-Tominaga M; Akiyama N; Sugiyama Y; Ebihara T; Fushimi T; Ichimoto K; Matsunaga A; Tsuruoka T; Kishita Y; Umetsu S; Inui A; Fujisawa T; Tanikawa K; Ito R; Fukuda A; Murakami J; Kaji S; Kasahara M; Shiraki K; Ohtake A; Okazaki Y; Murayama K
    Orphanet J Rare Dis; 2020 Jul; 15(1):169. PubMed ID: 32703289
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
    El-Hattab AW; Wang J; Dai H; Almannai M; Staufner C; Alfadhel M; Gambello MJ; Prasun P; Raza S; Lyons HJ; Afqi M; Saleh MAM; Faqeih EA; Alzaidan HI; Alshenqiti A; Flore LA; Hertecant J; Sacharow S; Barbouth DS; Murayama K; Shah AA; Lin HC; Wong LC
    Hum Mutat; 2018 Apr; 39(4):461-470. PubMed ID: 29282788
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; Cormier-Daire V; de Lonlay P; Munnich A; Rötig A
    J Pediatr; 2007 May; 150(5):531-4, 534.e1-6. PubMed ID: 17452231
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings.
    Prasad C; Melançon SB; Rupar CA; Prasad AN; Nunez LD; Rosenblatt DS; Majewski J
    Mol Genet Metab; 2013 Mar; 108(3):190-4. PubMed ID: 23375728
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.
    Bornstein B; Area E; Flanigan KM; Ganesh J; Jayakar P; Swoboda KJ; Coku J; Naini A; Shanske S; Tanji K; Hirano M; DiMauro S
    Neuromuscul Disord; 2008 Jun; 18(6):453-9. PubMed ID: 18504129
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.