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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1977 1
1978 1
1979 1
1980 1
1981 1
1984 1
1985 1
1988 3
1991 1
1992 1
1993 4
1994 5
1995 5
1996 5
1997 3
1998 5
1999 3
2000 1
2001 2
2002 4
2005 4
2006 1
2009 1
2010 4
2011 2
2012 7
2013 3
2014 4
2015 5
2016 2
2017 3
2018 3
2019 3
2023 2
2024 0

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86 results

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Page 1
Menkes syndrome and animal models.
Mercer JF. Mercer JF. Am J Clin Nutr. 1998 May;67(5 Suppl):1022S-1028S. doi: 10.1093/ajcn/67.5.1022S. Am J Clin Nutr. 1998. PMID: 9587146 Review.
Copper-resistant cells overexpress MNK and can efflux more copper than parental cells, consistent with the copper efflux role proposed for MNK. Patients with Menkes syndrome are predicted to have little or no MNK activity, whereas patients with occipital horn syndrome have …
Copper-resistant cells overexpress MNK and can efflux more copper than parental cells, consistent with the copper efflux role proposed for M …
Inborn errors of copper metabolism.
Kaler SG. Kaler SG. Handb Clin Neurol. 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. Handb Clin Neurol. 2013. PMID: 23622398 Free PMC article. Review.
ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.
De Feyter S, Beyens A, Callewaert B. De Feyter S, et al. J Inherit Metab Dis. 2023 Mar;46(2):163-173. doi: 10.1002/jimd.12590. Epub 2023 Feb 3. J Inherit Metab Dis. 2023. PMID: 36692329 Review.
In patients with ATP7A-related disorders, counseling is challenging due to clinical overlap between the entities, the absence of predictive biomarkers and a clear genotype-phenotype correlation. We performed a systematic literature review by querying the MEDLINE and Embase …
In patients with ATP7A-related disorders, counseling is challenging due to clinical overlap between the entities, the absence of predicti …
Copper comes of age in Melbourne.
Mercer JF, Camakaris J. Mercer JF, et al. Metallomics. 2016 Sep 1;8(9):816-23. doi: 10.1039/c6mt90022d. Epub 2016 Jul 11. Metallomics. 2016. PMID: 27399171
This work was always carried out with the intention of understanding the nature of the copper homeostatic mechanisms and a "copper pathway" in the cell, that David had the prescience to predict must exist despite scepticism from granting agencies! He indeed inspired us to …
This work was always carried out with the intention of understanding the nature of the copper homeostatic mechanisms and a "copper pathway" …
Menkes disease: recent advances and new insights into copper metabolism.
Tümer Z, Horn N. Tümer Z, et al. Ann Med. 1996 Apr;28(2):121-9. doi: 10.3109/07853899609092936. Ann Med. 1996. PMID: 8732640 Review.
Progressive neurodegeneration and connective tissue disturbances are the main manifestations of Menkes disease. Although many patients present a severe clinical course, variable forms can be distinguished, and the occipital horn syndrome has been suggested to be a mild all …
Progressive neurodegeneration and connective tissue disturbances are the main manifestations of Menkes disease. Although many patients prese …
Menkes disease: A rare disorder.
Jafri SK, Kumar R, Lashari SK, Chand P. Jafri SK, et al. J Pak Med Assoc. 2017 Oct;67(10):1609-1611. J Pak Med Assoc. 2017. PMID: 28955085
Patients with classic MD usually exhibit a severe neurodegenerative course, with poor long term outcome and death before the third year of life....
Patients with classic MD usually exhibit a severe neurodegenerative course, with poor long term outcome and death before the third ye …
Menkes disease in affected females: the clinical disease spectrum.
Smpokou P, Samanta M, Berry GT, Hecht L, Engle EC, Lichter-Konecki U. Smpokou P, et al. Am J Med Genet A. 2015 Feb;167A(2):417-20. doi: 10.1002/ajmg.a.36853. Epub 2014 Nov 26. Am J Med Genet A. 2015. PMID: 25428120 Free PMC article. Review.
We propose that the diagnosis of Menkes disease or variants in females with suspicious clinical findings is an important one to consider as early treatment with parenteral copper may be considered. The effect of this treatment on the disease course in females with MD is un …
We propose that the diagnosis of Menkes disease or variants in females with suspicious clinical findings is an important one to consider as …
Menkes kinky hair syndrome: a case report.
Ghosh S, Chaudhuri S. Ghosh S, et al. Dermatol Online J. 2012 Nov 15;18(11):4. Dermatol Online J. 2012. PMID: 23217945 Free article.
The diagnosis can be confirmed by a low plasma level of copper and ceruloplasmin. The prognosis of classical Menkes disease is poor. We report a case of Menkes kinky hair disease with characteristic clinical, laboratory, and radiological findings with significant macroceph …
The diagnosis can be confirmed by a low plasma level of copper and ceruloplasmin. The prognosis of classical Menkes disease is poor. …
The multi-layered regulation of copper translocating P-type ATPases.
Veldhuis NA, Gaeth AP, Pearson RB, Gabriel K, Camakaris J. Veldhuis NA, et al. Biometals. 2009 Feb;22(1):177-90. doi: 10.1007/s10534-008-9183-2. Epub 2009 Jan 7. Biometals. 2009. PMID: 19130269 Review.
While intramolecular differences may specify their distinct roles, cellular signaling components are predicted to be critical for both differences and synergy between these enzymes. ...
While intramolecular differences may specify their distinct roles, cellular signaling components are predicted to be critical for bot …
Menkes' kinky hair syndrome.
George S, Matthai SA, Sosamma MM, Sukumaran TU. George S, et al. Indian J Pediatr. 2005 Oct;72(10):891-2. doi: 10.1007/BF02731126. Indian J Pediatr. 2005. PMID: 16272669 No abstract available.
86 results