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Items: 1 to 20 of 27

1.

Menkes disease and infantile epilepsy.

Prasad AN, Levin S, Rupar CA, Prasad C.

Brain Dev. 2011 Nov;33(10):866-76. doi: 10.1016/j.braindev.2011.08.002. Epub 2011 Sep 16. Review.

PMID:
21924848
2.

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. doi: 10.1177/0883073814541469. Epub 2014 Jul 17. Review.

PMID:
25038123
4.

[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 13;151(41):2266-70. Review. Dutch.

PMID:
17987894
5.

Menkes disease.

Tümer Z, Møller LB.

Eur J Hum Genet. 2010 May;18(5):511-8. doi: 10.1038/ejhg.2009.187. Epub 2009 Nov 4. Review.

6.

Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.

Zlatic S, Comstra HS, Gokhale A, Petris MJ, Faundez V.

Neurobiol Dis. 2015 Sep;81:154-61. doi: 10.1016/j.nbd.2014.12.024. Epub 2015 Jan 10. Review.

7.

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. doi: 10.1002/ajmg.a.36853. Epub 2014 Nov 26. Review.

8.

Menkes disease.

Bertini I, Rosato A.

Cell Mol Life Sci. 2008 Jan;65(1):89-91. Review.

PMID:
17989919
9.

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. doi: 10.1002/humu.22266. Review.

PMID:
23281160
10.

ATP7A-related copper transport diseases-emerging concepts and future trends.

Kaler SG.

Nat Rev Neurol. 2011 Jan;7(1):15-29. doi: 10.1038/nrneurol.2010.180. Review.

11.

Molecular mechanisms of copper metabolism and the role of the Menkes disease protein.

Harrison MD, Dameron CT.

J Biochem Mol Toxicol. 1999;13(2):93-106. Review.

PMID:
9890194
12.

Small amounts of functional ATP7A protein permit mild phenotype.

Møller LB.

J Trace Elem Med Biol. 2015;31:173-7. doi: 10.1016/j.jtemb.2014.07.022. Epub 2014 Aug 8. Review.

PMID:
25172213
13.

Mutation spectrum of ATP7A, the gene defective in Menkes disease.

Tümer Z, Møller LB, Horn N.

Adv Exp Med Biol. 1999;448:83-95. Review.

PMID:
10079817
14.

ATP7A-Related Copper Transport Disorders.

Kaler SG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 May 9 [updated 2016 Aug 18].

15.

Molecular diagnosis of Menkes disease: genotype-phenotype correlation.

Møller LB, Mogensen M, Horn N.

Biochimie. 2009 Oct;91(10):1273-7. doi: 10.1016/j.biochi.2009.05.011. Epub 2009 Jun 6. Review.

PMID:
19501626
16.

Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis.

La Fontaine S, Mercer JF.

Arch Biochem Biophys. 2007 Jul 15;463(2):149-67. Epub 2007 May 7. Review.

PMID:
17531189
17.

The role of insufficient copper in lipid synthesis and fatty-liver disease.

Morrell A, Tallino S, Yu L, Burkhead JL.

IUBMB Life. 2017 Apr;69(4):263-270. doi: 10.1002/iub.1613. Epub 2017 Mar 8. Review.

18.
19.

Recent developments in Menkes disease.

Kodama H.

J Inherit Metab Dis. 1993;16(4):791-9. Review.

PMID:
8412022
20.

Menkes disease: underlying genetic defect and new diagnostic possibilities.

Tümer Z, Horn N.

J Inherit Metab Dis. 1998 Aug;21(5):604-12. Review.

PMID:
9728340

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