Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

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

Year Number of Results
1954 1
1960 2
1968 1
1969 1
1970 1
1971 5
1972 4
1973 9
1974 17
1975 11
1976 16
1977 21
1978 30
1979 41
1980 20
1981 28
1982 31
1983 31
1984 22
1985 22
1986 17
1987 32
1988 25
1989 27
1990 20
1991 29
1992 21
1993 52
1994 41
1995 26
1996 40
1997 37
1998 34
1999 37
2000 22
2001 31
2002 31
2003 20
2004 16
2005 27
2006 28
2007 18
2008 22
2009 25
2010 22
2011 35
2012 36
2013 19
2014 47
2015 21
2016 20
2017 22
2018 19
2019 21
2020 20
2021 21
2022 7
2023 16
2024 11
2025 12
2026 3

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

1,281 results

Results by year

Filters applied: . Clear all
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.
Menkes syndrome is an X-linked genetic copper deficiency that is usually fatal in early childhood. ...Copper-resistant cells overexpress MNK and can efflux more copper than parental cells, consistent with the copper efflux role proposed for MNK. Patients with Men …
Menkes syndrome is an X-linked genetic copper deficiency that is usually fatal in early childhood. ...Copper-resistant cells o …
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 syndrome].
Baerlocher K, Nadal D. Baerlocher K, et al. Ergeb Inn Med Kinderheilkd. 1988;57:77-144. Ergeb Inn Med Kinderheilkd. 1988. PMID: 3063527 Review. German. No abstract available.
Menkes' syndrome: ophthalmic findings.
Gasch AT, Caruso RC, Kaler SG, Kaiser-Kupfer M. Gasch AT, et al. Ophthalmology. 2002 Aug;109(8):1477-83. doi: 10.1016/s0161-6420(02)01095-3. Ophthalmology. 2002. PMID: 12153799
PURPOSE: To report the prevalence and clinical significance of ocular findings in 20 patients with Menkes' syndrome recruited for a clinical trial at the National Institute of Child Health and Human Development (NICHHD). ...CONCLUSIONS: Patients with Menkes' …
PURPOSE: To report the prevalence and clinical significance of ocular findings in 20 patients with Menkes' syndrome recruited …
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 catecholamine leve …
Menkes disease is a rare X-linked neurodegenerative disorder caused by defect in copper metabolism. ...Reviewed evidence suggests tha …
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 age. ... …
Loss-of-function mutations in the copper (Cu) transporter ATP7A cause Menkes disease. Menkes is an infantile, fatal, hereditar …
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 disease.
Kaler SG. Kaler SG. Adv Pediatr. 1994;41:263-304. Adv Pediatr. 1994. PMID: 7992686 Review. No abstract available.
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. ...
Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue dist …
Menkes disease.
Bertini I, Rosato A. Bertini I, et al. Cell Mol Life Sci. 2008 Jan;65(1):89-91. doi: 10.1007/s00018-007-7439-6. Cell Mol Life Sci. 2008. PMID: 17989919 Free PMC article. Review.
Menkes disease is caused by mutations in the copper-transporting P(1B)-type ATPase ATP7A. ...
Menkes disease is caused by mutations in the copper-transporting P(1B)-type ATPase ATP7A. ...
1,281 results