163 related articles for article (PubMed ID: 24882692)
1. 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]
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. 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]
4. 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]
5. A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease.
Park HD; Moon HK; Lee J; Lee M; Lee SY; Kim JW; Ki CS
Ann Clin Lab Sci; 2009; 39(2):188-91. PubMed ID: 19429807
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. Twenty-five novel mutations including duplications in the ATP7A gene.
Moizard MP; Ronce N; Blesson S; Bieth E; Burglen L; Mignot C; Mortemousque I; Marmin N; Dessay B; Danesino C; Feillet F; Castelnau P; Toutain A; Moraine C; Raynaud M
Clin Genet; 2011 Mar; 79(3):243-53. PubMed ID: 21208200
[TBL] [Abstract][Full Text] [Related]
11. Electro-clinical features and magnetic resonance imaging correlates in Menkes disease.
Bindu PS; Taly AB; Kothari S; Christopher R; Gayathri N; Sinha S; Nagappa M; Bhatt M; Bharath RD
Brain Dev; 2013 May; 35(5):398-405. PubMed ID: 22921468
[TBL] [Abstract][Full Text] [Related]
12. Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family.
Borm B; Møller LB; Hausser I; Emeis M; Baerlocher K; Horn N; Rossi R
J Pediatr; 2004 Jul; 145(1):119-21. PubMed ID: 15238919
[TBL] [Abstract][Full Text] [Related]
13. Menkes disease in affected females: the clinical disease spectrum.
Smpokou P; Samanta M; Berry GT; Hecht L; Engle EC; Lichter-Konecki U
Am J Med Genet A; 2015 Feb; 167A(2):417-20. PubMed ID: 25428120
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis.
László A; Endreffy E; Tümer Z; Horn N; Szabó J
Ideggyogy Sz; 2010 Jan; 63(1-2):48-51. PubMed ID: 20420124
[TBL] [Abstract][Full Text] [Related]
16. A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.
Møller LB; Rea G; Yasmeen S; Skjørringe T; Thorborg SS; Morrison PJ; Donnelly DE
Mol Genet Metab; 2013 Dec; 110(4):490-2. PubMed ID: 24100245
[TBL] [Abstract][Full Text] [Related]
17. [Clinical manifestations of Menkes disease vary according to patient's genotype and the initiation time of treatment with copper-histidine injections].
Yagi M; Kusunoki N; Lee T; Awano H; Kodama H; Takeshima Y; Iijima K
No To Hattatsu; 2014 May; 46(3):227-8. PubMed ID: 24902345
[No Abstract] [Full Text] [Related]
18. 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]
19. An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
Tümer Z
Hum Mutat; 2013 Mar; 34(3):417-29. PubMed ID: 23281160
[TBL] [Abstract][Full Text] [Related]
20. Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome.
Seidel J; Møller LB; Mentzel HJ; Kauf E; Vogt S; Patzer S; Wollina U; Zintl F; Horn N
Cell Mol Biol (Noisy-le-grand); 2001; 47 Online Pub():OL141-8. PubMed ID: 11936860
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]