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Items: 1 to 20 of 21

1.

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 7;358(6):605-14. doi: 10.1056/NEJMoa070613.

3.

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
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.

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
7.

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
8.

Menkes disease.

Bertini I, Rosato A.

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

PMID:
17989919
9.

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.

10.

Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease.

Voskoboinik I, Camakaris J.

J Bioenerg Biomembr. 2002 Oct;34(5):363-71. Review.

PMID:
12539963
11.

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.

12.

Translational research investigations on ATP7A: an important human copper ATPase.

Kaler SG.

Ann N Y Acad Sci. 2014 May;1314:64-8. doi: 10.1111/nyas.12422. Epub 2014 Apr 15. Review.

13.

Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency.

Kaler SG.

Am J Clin Nutr. 1998 May;67(5 Suppl):1029S-1034S. Review.

PMID:
9587147
14.

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.

de Bie P, Muller P, Wijmenga C, Klomp LW.

J Med Genet. 2007 Nov;44(11):673-88. Epub 2007 Aug 23. Review.

15.

Copper transporting P-type ATPases and human disease.

Cox DW, Moore SD.

J Bioenerg Biomembr. 2002 Oct;34(5):333-8. Review.

PMID:
12539960
16.

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
17.

ATP7A-Related Copper Transport Disorders.

Kaler SG.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2003 May 9 [updated 2010 Oct 14].

18.

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
19.

Metabolic and molecular bases of Menkes disease and occipital horn syndrome.

Kaler SG.

Pediatr Dev Pathol. 1998 Jan-Feb;1(1):85-98. Review.

PMID:
10463276
20.

Clinical manifestations and treatment of Menkes disease and its variants.

Kodama H, Murata Y, Kobayashi M.

Pediatr Int. 1999 Aug;41(4):423-9. Review.

PMID:
10453199
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