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Menkes disease[ pathogenesis of copper ]相关文献:
A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease.
Vairo FPE, Chwal BC, Perini S, Ferreira MAP, de Freitas Lopes AC, Saute JAM.
Mol Genet Metab. 2019 Jan;126(1):6-13. doi: 10.1016/j.ymgme.2018.12.005. Epub 2018 Dec 11.
PMID:30594472
Elesclomol alleviates Menkes pathology and mortality by escorting Cu to cuproenzymes in mice.
Guthrie LM, Soma S, Yuan S, Silva A, Zulkifli M, Snavely TC, Greene HF, Nunez E, Lynch B, De Ville C, Shanbhag V, Lopez FR, Acharya A, Petris MJ, Kim BE, Gohil VM, Sacchettini JC.
Science. 2020 May 8;368(6491):620-625. doi: 10.1126/science.aaz8899.
PMID:32381719
Copper deficiency.
Madsen E, Gitlin JD.
Curr Opin Gastroenterol. 2007 Mar;23(2):187-92. doi: 10.1097/MOG.0b013e32801421bb.
PMID:17268249
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.
PMID:19888294
Menkes disease.
Bertini I, Rosato A.
Cell Mol Life Sci. 2008 Jan;65(1):89-91. doi: 10.1007/s00018-007-7439-6.
PMID:17989919
Copper comes of age in Melbourne.
Mercer JF, Camakaris J.
Metallomics. 2016 Sep 1;8(9):816-23. doi: 10.1039/c6mt90022d. Epub 2016 Jul 11.
PMID:27399171
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. doi: 10.1136/jmg.2007.052746. Epub 2007 Aug 23.
PMID:17717039
Menkes disease: an X-linked neurological disorder of the copper metabolism.
Horn N, Tønnesen T, Tümer Z.
Brain Pathol. 1992 Oct;2(4):351-62. doi: 10.1111/j.1750-3639.1992.tb00711.x.
PMID:1341968
Menkes Disease.
Ashrafi MR, Ghasemi D, Safavi M.
Arch Iran Med. 2021 Dec 1;24(12):919-920. doi: 10.34172/aim.2021.138.
PMID:35014241
The Menkes copper transporter is required for the activation of tyrosinase.
Petris MJ, Strausak D, Mercer JF.
Hum Mol Genet. 2000 Nov 22;9(19):2845-51. doi: 10.1093/hmg/9.19.2845.
PMID:11092760
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