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

Year Number of Results
1968 1
1971 1
1972 3
1973 8
1974 15
1975 7
1976 14
1977 19
1978 28
1979 38
1980 20
1981 28
1982 29
1983 27
1984 22
1985 20
1986 15
1987 28
1988 21
1989 27
1990 17
1991 20
1992 14
1993 42
1994 33
1995 21
1996 31
1997 37
1998 32
1999 37
2000 22
2001 30
2002 31
2003 16
2004 15
2005 26
2006 25
2007 18
2008 21
2009 24
2010 22
2011 28
2012 34
2013 15
2014 40
2015 21
2016 18
2017 20
2018 20
2019 19
2020 18
2021 13
2022 10
2023 13
2024 2

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1,124 results

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Page 1
Menkes disease.
Tümer Z, Møller LB. Tümer Z, et al. Eur J Hum Genet. 2010 May;18(5):511-8. doi: 10.1038/ejhg.2009.187. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888294 Free PMC article. Review.
Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive
Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tiss
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. Guthrie LM, et al. Science. 2020 May 8;368(6491):620-625. doi: 10.1126/science.aaz8899. Science. 2020. PMID: 32381719 Free PMC article.
Loss-of-function mutations in the copper (Cu) transporter ATP7A cause Menkes disease. Menkes is an infantile, fatal, hereditary copper-deficiency disorder that is characterized by progressive neurological injury culminating in death, typically by 3 years of a …
Loss-of-function mutations in the copper (Cu) transporter ATP7A cause Menkes disease. Menkes is an infantile, fatal, he …
Menkes kinky hair syndrome.
Houston CS, Harding SR. Houston CS, et al. AJNR Am J Neuroradiol. 1993 May-Jun;14(3):785. AJNR Am J Neuroradiol. 1993. PMID: 8517376 Free PMC article. No abstract available.
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. Vairo FPE, et al. Mol Genet Metab. 2019 Jan;126(1):6-13. doi: 10.1016/j.ymgme.2018.12.005. Epub 2018 Dec 11. Mol Genet Metab. 2019. PMID: 30594472
Menkes disease is a rare X-linked neurodegenerative disorder caused by defect in copper metabolism. ...Reviewed evidence suggests that prenatal genetic diagnosis in families with previous diagnosis of Menkes disease is feasible; analysis of plasma cate
Menkes disease is a rare X-linked neurodegenerative disorder caused by defect in copper metabolism. ...Reviewed evidence sugge
Ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis.
Caccavale S, Bove D, Bove RM, LA Montagna M. Caccavale S, et al. G Ital Dermatol Venereol. 2017 Feb;152(1):58-65. doi: 10.23736/S0392-0488.16.05083-5. Epub 2016 Mar 22. G Ital Dermatol Venereol. 2017. PMID: 27002302 Review.
In this review, different aspects of ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis are examined: clinical features, genetic defect, mutation spectrum, pathogenesis, and neurobiological basis; indications for clinical practice a …
In this review, different aspects of ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis are …
Menkes Disease.
Ashrafi MR, Ghasemi D, Safavi M. Ashrafi MR, et al. Arch Iran Med. 2021 Dec 1;24(12):919-920. doi: 10.34172/aim.2021.138. Arch Iran Med. 2021. PMID: 35014241 Free article. No abstract available.
Menkes's syndrome.
Maddox JL Jr, Odom RB, Goette DK. Maddox JL Jr, et al. Pediatr Dermatol. 1984 Apr;1(4):307-11. doi: 10.1111/j.1525-1470.1984.tb01135.x. Pediatr Dermatol. 1984. PMID: 6494070
Menkes's syndrome (trichopoliodystrophy) is an x-linked, recessive genodermatosis characterized by hair defects, severe retardation, convulsions, progressive neurologic deterioration, and early death. Recent studies in copper metabolism suggest that Menkes
Menkes's syndrome (trichopoliodystrophy) is an x-linked, recessive genodermatosis characterized by hair defects, severe
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.
1,124 results