Menkes disease (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Menkes disease" in English language version.

refsWebsite

Global rank English rank

15nih.gov

4^th place

11doi.org

2^nd place

4semanticscholar.org

11^th place

8^th place

3web.archive.org

1^st place

2omim.org

4,380^th place

4,305^th place

2themenkesfoundation.org

low place

2medlineplus.gov

1,581^st place

1,299^th place

1rarediseases.org

5,181^st place

3,260^th place

1medscape.com

719^th place

636^th place

doi.org

Rensing, Christopher; McDevitt, Sylvia Franke (2013). "The Copper Metallome in Prokaryotic Cells". Metallomics and the Cell. Metal Ions in Life Sciences. Vol. 12. pp. 417–450. doi:10.1007/978-94-007-5561-1_12. ISBN 978-94-007-5560-4.
de Bie P, Muller P, Wijmenga C, Klomp LW (Nov 2007). "Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes". J. Med. Genet. 44 (11): 673–688. doi:10.1136/jmg.2007.052746. PMC 2752173. PMID 17717039.
Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S (2005). "The copper-transporting ATPases, Menkes and Wilson disease proteins, have distinct roles in adult and developing cerebellum". J Biol Chem. 280 (10): 9640–5. doi:10.1074/jbc.M413840200. PMID 15634671.
Voskoboinik I, Camakaris J (2002). "Menkes copper-translocating P-type ATPase (ATPTA): biochemical and cell biology properties, and role in Menkes disease". J Bioenerg Biomembr. 34 (5): 363–71. doi:10.1023/A:1021250003104. PMID 12539963. S2CID 23109512.
Kim BE, Smith K, Meagher CK, Petris MJ (November 2002). "A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation". J. Biol. Chem. 277 (46): 44079–84. doi:10.1074/jbc.M208737200. PMID 12221109.
Scheiber, Ivo; Dringen, Ralf; Mercer, Julian F. B. (2013). "Chapter 11. Copper: Effects of Deficiency and Overload". In Astrid Sigel, Helmut Sigel and Roland K. O. Sigel (ed.). Interrelations between Essential Metal Ions and Human Diseases. Metal Ions in Life Sciences. Vol. 13. Springer. pp. 359–387. doi:10.1007/978-94-007-7500-8_11. ISBN 978-94-007-7499-5. PMID 24470097.
Zeid, Cynthia Abou; Yi, Ling; Kaler, Stephen G. (2019). "Menkes Disease and Other Disorders Related to ATP7A". Clinical and Translational Perspectives on WILSON DISEASE. pp. 439–447. doi:10.1016/B978-0-12-810532-0.00043-4. ISBN 978-0-12-810532-0.
Matsuo M, Tasaki R, Kodama H, Hamasaki Y (2005). "Screening for Menkes disease using the urine HVA/VMA ratio". J. Inherit. Metab. Dis. 28 (1): 89–93. doi:10.1007/s10545-005-5083-6. PMID 15702409. S2CID 32096977.
Kaler SG, Holmes CS, Goldstein DS (February 2008). "Neonatal diagnosis and treatment of Menkes disease". N. Engl. J. Med. 358 (6): 605–14. doi:10.1056/NEJMoa070613. PMC 3477514. PMID 18256395.
Tønnesen T, Kleijer WJ, Horn N (February 1991). "Incidence of Menkes disease". Hum. Genet. 86 (4): 408–10. doi:10.1007/BF00201846. PMID 1999344. S2CID 1359203.
Gu YH, Kodama H, Shiga K, Nakata S, Yanagawa Y, Ozawa H (2005). "A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis". J. Inherit. Metab. Dis. 28 (4): 473–8. doi:10.1007/s10545-005-0473-3. PMID 15902550. S2CID 1771596.

medlineplus.gov

"Menkes syndrome". MedlinePlus Genetics.
MedlinePlus Encyclopedia: Menkes disease

medscape.com

emedicine.medscape.com

Menkes Disease at eMedicine

nih.gov

pubmed.ncbi.nlm.nih.gov

de Bie P, Muller P, Wijmenga C, Klomp LW (Nov 2007). "Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes". J. Med. Genet. 44 (11): 673–688. doi:10.1136/jmg.2007.052746. PMC 2752173. PMID 17717039.
Menkes JH, Alter M, Steigleder GK, Weakley DR, Sung JH (1962). "A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration". Pediatrics. 29: 764–779. PMID 14472668.
Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S (2005). "The copper-transporting ATPases, Menkes and Wilson disease proteins, have distinct roles in adult and developing cerebellum". J Biol Chem. 280 (10): 9640–5. doi:10.1074/jbc.M413840200. PMID 15634671.
Voskoboinik I, Camakaris J (2002). "Menkes copper-translocating P-type ATPase (ATPTA): biochemical and cell biology properties, and role in Menkes disease". J Bioenerg Biomembr. 34 (5): 363–71. doi:10.1023/A:1021250003104. PMID 12539963. S2CID 23109512.
Kim BE, Smith K, Meagher CK, Petris MJ (November 2002). "A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation". J. Biol. Chem. 277 (46): 44079–84. doi:10.1074/jbc.M208737200. PMID 12221109.
Scheiber, Ivo; Dringen, Ralf; Mercer, Julian F. B. (2013). "Chapter 11. Copper: Effects of Deficiency and Overload". In Astrid Sigel, Helmut Sigel and Roland K. O. Sigel (ed.). Interrelations between Essential Metal Ions and Human Diseases. Metal Ions in Life Sciences. Vol. 13. Springer. pp. 359–387. doi:10.1007/978-94-007-7500-8_11. ISBN 978-94-007-7499-5. PMID 24470097.
Matsuo M, Tasaki R, Kodama H, Hamasaki Y (2005). "Screening for Menkes disease using the urine HVA/VMA ratio". J. Inherit. Metab. Dis. 28 (1): 89–93. doi:10.1007/s10545-005-5083-6. PMID 15702409. S2CID 32096977.
Craiu, Dana; Kaler, Stephen; Craiu, Mihai (2014). "Role of optic microscopy for early diagnosis of Menkes disease". Romanian Journal of Morphology and Embryology = Revue Roumaine de Morphologie et Embryologie. 55 (3): 953–956. PMC 6456807. PMID 25329126.
Kaler SG, Holmes CS, Goldstein DS (February 2008). "Neonatal diagnosis and treatment of Menkes disease". N. Engl. J. Med. 358 (6): 605–14. doi:10.1056/NEJMoa070613. PMC 3477514. PMID 18256395.
Tønnesen T, Kleijer WJ, Horn N (February 1991). "Incidence of Menkes disease". Hum. Genet. 86 (4): 408–10. doi:10.1007/BF00201846. PMID 1999344. S2CID 1359203.
Gu YH, Kodama H, Shiga K, Nakata S, Yanagawa Y, Ozawa H (2005). "A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis". J. Inherit. Metab. Dis. 28 (4): 473–8. doi:10.1007/s10545-005-0473-3. PMID 15902550. S2CID 1771596.

ncbi.nlm.nih.gov

de Bie P, Muller P, Wijmenga C, Klomp LW (Nov 2007). "Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes". J. Med. Genet. 44 (11): 673–688. doi:10.1136/jmg.2007.052746. PMC 2752173. PMID 17717039.
Craiu, Dana; Kaler, Stephen; Craiu, Mihai (2014). "Role of optic microscopy for early diagnosis of Menkes disease". Romanian Journal of Morphology and Embryology = Revue Roumaine de Morphologie et Embryologie. 55 (3): 953–956. PMC 6456807. PMID 25329126.
Kaler SG, Holmes CS, Goldstein DS (February 2008). "Neonatal diagnosis and treatment of Menkes disease". N. Engl. J. Med. 358 (6): 605–14. doi:10.1056/NEJMoa070613. PMC 3477514. PMID 18256395.

ghr.nlm.nih.gov

"ATP7A gene". Genetics Home Reference. 2015-12-07. Retrieved 2015-12-10.

omim.org

Online Mendelian Inheritance in Man (OMIM): 309400
Online Mendelian Inheritance in Man (OMIM): 300011

rarediseases.org

"Menkes Disease". NORD (National Organization for Rare Disorders). Retrieved 2022-10-10.

semanticscholar.org

api.semanticscholar.org

Voskoboinik I, Camakaris J (2002). "Menkes copper-translocating P-type ATPase (ATPTA): biochemical and cell biology properties, and role in Menkes disease". J Bioenerg Biomembr. 34 (5): 363–71. doi:10.1023/A:1021250003104. PMID 12539963. S2CID 23109512.
Matsuo M, Tasaki R, Kodama H, Hamasaki Y (2005). "Screening for Menkes disease using the urine HVA/VMA ratio". J. Inherit. Metab. Dis. 28 (1): 89–93. doi:10.1007/s10545-005-5083-6. PMID 15702409. S2CID 32096977.
Tønnesen T, Kleijer WJ, Horn N (February 1991). "Incidence of Menkes disease". Hum. Genet. 86 (4): 408–10. doi:10.1007/BF00201846. PMID 1999344. S2CID 1359203.
Gu YH, Kodama H, Shiga K, Nakata S, Yanagawa Y, Ozawa H (2005). "A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis". J. Inherit. Metab. Dis. 28 (4): 473–8. doi:10.1007/s10545-005-0473-3. PMID 15902550. S2CID 1771596.

themenkesfoundation.org

"Research Overview". themenkesfoundation.org. Archived from the original on 2017-02-12. Retrieved 2015-12-10.
"Research Overview". themenkesfoundation.org. Archived from the original on 2017-02-12. Retrieved 2018-04-08.

web.archive.org

"Menkes syndrome" at Dorland's Medical Dictionary
"Research Overview". themenkesfoundation.org. Archived from the original on 2017-02-12. Retrieved 2015-12-10.
"Research Overview". themenkesfoundation.org. Archived from the original on 2017-02-12. Retrieved 2018-04-08.