BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

190 related articles for article (PubMed ID: 20652413)

  • 1. Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
    Kaler SG; Liew CJ; Donsante A; Hicks JD; Sato S; Greenfield JC
    J Inherit Metab Dis; 2010 Oct; 33(5):583-9. PubMed ID: 20652413
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Menkes disease and infantile epilepsy.
    Prasad AN; Levin S; Rupar CA; Prasad C
    Brain Dev; 2011 Nov; 33(10):866-76. PubMed ID: 21924848
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Menkes disease in Korea: ATP7A mutation and epilepsy phenotype.
    Lee JS; Lim BC; Kim KJ; Hwang YS; Cheon JE; Kim IO; Seong MW; Park SS; Chae JH
    Brain Dev; 2015 Feb; 37(2):223-9. PubMed ID: 24882692
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Neonatal diagnosis and treatment of Menkes disease.
    Kaler SG; Holmes CS; Goldstein DS; Tang J; Godwin SC; Donsante A; Liew CJ; Sato S; Patronas N
    N Engl J Med; 2008 Feb; 358(6):605-14. PubMed ID: 18256395
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.
    Kim JH; Lee BH; Kim YM; Choi JH; Kim GH; Cheon CK; Yoo HW
    Metab Brain Dis; 2015 Feb; 30(1):75-81. PubMed ID: 24919650
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Menkes disease.
    Tümer Z; Møller LB
    Eur J Hum Genet; 2010 May; 18(5):511-8. PubMed ID: 19888294
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.
    Tang J; Donsante A; Desai V; Patronas N; Kaler SG
    Mol Genet Metab; 2008 Nov; 95(3):174-81. PubMed ID: 18752978
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of a novel mutation in the ATP7A gene in a Korean patient with Menkes disease.
    Kim YH; Lee R; Yoo HW; Yum MS; Bae SH; Chung SC; Park YM; Son JS
    J Korean Med Sci; 2011 Jul; 26(7):951-3. PubMed ID: 21738351
    [TBL] [Abstract][Full Text] [Related]  

  • 9. In utero copper treatment for Menkes disease associated with a severe ATP7A mutation.
    Haddad MR; Macri CJ; Holmes CS; Goldstein DS; Jacobson BE; Centeno JA; Popek EJ; Gahl WA; Kaler SG
    Mol Genet Metab; 2012 Sep; 107(1-2):222-8. PubMed ID: 22695177
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.
    Tümer Z; Birk Møller L; Horn N
    Hum Mutat; 2003 Dec; 22(6):457-64. PubMed ID: 14635105
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Epilepsy in children with Menkes disease: a systematic review of literature.
    Verrotti A; Carelli A; Coppola G
    J Child Neurol; 2014 Dec; 29(12):1757-64. PubMed ID: 25038123
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Small amounts of functional ATP7A protein permit mild phenotype.
    Møller LB
    J Trace Elem Med Biol; 2015; 31():173-7. PubMed ID: 25172213
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect].
    Aldenhoven M; Klomp LW; van Hasselt PM; de Koning TJ; Visser G
    Ned Tijdschr Geneeskd; 2007 Oct; 151(41):2266-70. PubMed ID: 17987894
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.
    Dagenais SL; Adam AN; Innis JW; Glover TW
    Am J Hum Genet; 2001 Aug; 69(2):420-7. PubMed ID: 11431706
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.
    Kaler SG
    J Trace Elem Med Biol; 2014 Oct; 28(4):427-30. PubMed ID: 25281031
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model.
    Donsante A; Yi L; Zerfas PM; Brinster LR; Sullivan P; Goldstein DS; Prohaska J; Centeno JA; Rushing E; Kaler SG
    Mol Ther; 2011 Dec; 19(12):2114-23. PubMed ID: 21878905
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Menkes' disease: heterozygosity testing by quantitative real-time PCR and the dilemma of therapeutic support].
    Rittinger O; Sander G; Schaller A; Gallati S; Mayr H; Sperl W
    Klin Padiatr; 2005; 217(5):286-90. PubMed ID: 16167277
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Neonatal erythroderma as a first manifestation of Menkes disease.
    Galve J; Vicente A; González-Enseñat MA; Pérez-Dueñas B; Cusí V; Møller LB; Julià M; Domínguez A; Ferrando J
    Pediatrics; 2012 Jul; 130(1):e239-42. PubMed ID: 22711717
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Increased frequency of congenital heart defects in Menkes disease.
    Hicks JD; Donsante A; Pierson TM; Gillespie MJ; Chou DE; Kaler SG
    Clin Dysmorphol; 2012 Apr; 21(2):59-63. PubMed ID: 22134099
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.
    León-García G; Santana A; Villegas-Sepúlveda N; Pérez-González C; Henrríquez-Esquíroz JM; de León-García C; Wong C; Baeza I
    BMC Pediatr; 2012 Sep; 12():150. PubMed ID: 22992316
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.