BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

338 related articles for article (PubMed ID: 18977979)

  • 1. Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses.
    Gibson K; Halliday JL; Kirby DM; Yaplito-Lee J; Thorburn DR; Boneh A
    Pediatrics; 2008 Nov; 122(5):1003-8. PubMed ID: 18977979
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cardiac manifestations in oxidative phosphorylation disorders of childhood.
    Yaplito-Lee J; Weintraub R; Jamsen K; Chow CW; Thorburn DR; Boneh A
    J Pediatr; 2007 Apr; 150(4):407-11. PubMed ID: 17382120
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ophthalmologic presentation of oxidative phosphorylation diseases of childhood.
    Rose LV; Rose NT; Elder JE; Thorburn DR; Boneh A
    Pediatr Neurol; 2008 Jun; 38(6):395-7. PubMed ID: 18486820
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.
    Scaglia F; Towbin JA; Craigen WJ; Belmont JW; Smith EO; Neish SR; Ware SM; Hunter JV; Fernbach SD; Vladutiu GD; Wong LJ; Vogel H
    Pediatrics; 2004 Oct; 114(4):925-31. PubMed ID: 15466086
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases.
    Debray FG; Lambert M; Chevalier I; Robitaille Y; Decarie JC; Shoubridge EA; Robinson BH; Mitchell GA
    Pediatrics; 2007 Apr; 119(4):722-33. PubMed ID: 17403843
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.
    Berger I; Hershkovitz E; Shaag A; Edvardson S; Saada A; Elpeleg O
    Ann Neurol; 2008 Mar; 63(3):405-8. PubMed ID: 18306244
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
    Ugalde C; Janssen RJ; van den Heuvel LP; Smeitink JA; Nijtmans LG
    Hum Mol Genet; 2004 Mar; 13(6):659-67. PubMed ID: 14749350
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Abnormalities in gastrointestinal motility are associated with diseases of oxidative phosphorylation in children.
    Chitkara DK; Nurko S; Shoffner JM; Buie T; Flores A
    Am J Gastroenterol; 2003 Apr; 98(4):871-7. PubMed ID: 12738470
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Antenatal manifestations of mitochondrial respiratory chain deficiency.
    von Kleist-Retzow JC; Cormier-Daire V; Viot G; Goldenberg A; Mardach B; Amiel J; Saada P; Dumez Y; Brunelle F; Saudubray JM; Chrétien D; Rötig A; Rustin P; Munnich A; De Lonlay P
    J Pediatr; 2003 Aug; 143(2):208-12. PubMed ID: 12970634
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal.
    Diogo L; Grazina M; Garcia P; Rebelo O; Veiga MA; Cuevas J; Vilarinho L; de Almeida IT; Oliveira CR
    Pediatr Neurol; 2009 May; 40(5):351-6. PubMed ID: 19380071
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Progressive encephalopathy and complex I deficiency associated with mutations in MTND1.
    Moslemi AR; Darin N; Tulinius M; Wiklund LM; Holme E; Oldfors A
    Neuropediatrics; 2008 Feb; 39(1):24-8. PubMed ID: 18504678
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
    Distelmaier F; Koopman WJ; van den Heuvel LP; Rodenburg RJ; Mayatepek E; Willems PH; Smeitink JA
    Brain; 2009 Apr; 132(Pt 4):833-42. PubMed ID: 19336460
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy.
    Levéen P; Kotarsky H; Mörgelin M; Karikoski R; Elmér E; Fellman V
    Hepatology; 2011 Feb; 53(2):437-47. PubMed ID: 21274865
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects.
    Schiff M; Ogier de Baulny H; Lombès A
    Semin Fetal Neonatal Med; 2011 Aug; 16(4):216-21. PubMed ID: 21606011
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Clinical variability and diagnosis steps in childhood mitochondrial disease].
    Mercier S; Josselin de Wasch M; Labarthe F; Jardel C; Lombès A; Munnich A; Toutain A; Nivet H; Saliba E; Chantepie A; Castelnau P
    Arch Pediatr; 2009 Apr; 16(4):322-30. PubMed ID: 19233626
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mitochondrial hepatopathies in the newborn period.
    Fellman V; Kotarsky H
    Semin Fetal Neonatal Med; 2011 Aug; 16(4):222-8. PubMed ID: 21680270
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Infantile hemangiomas and retinopathy of prematurity: possible association.
    Praveen V; Vidavalur R; Rosenkrantz TS; Hussain N
    Pediatrics; 2009 Mar; 123(3):e484-9. PubMed ID: 19221153
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Respiratory chain complex I deficiency.
    Triepels RH; Van Den Heuvel LP; Trijbels JM; Smeitink JA
    Am J Med Genet; 2001; 106(1):37-45. PubMed ID: 11579423
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Neonatal muscular manifestations in mitochondrial disorders.
    Tulinius M; Oldfors A
    Semin Fetal Neonatal Med; 2011 Aug; 16(4):229-35. PubMed ID: 21596636
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular genetic and clinical aspects of mitochondrial disorders in childhood.
    Moslemi AR; Darin N
    Mitochondrion; 2007 Jul; 7(4):241-52. PubMed ID: 17376748
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.