| Excerpt | Reference |
|---|
| "Menkes disease is an X-linked, recessive disturbance of copper metabolism associated with a progressive clinical course and abnormal hair." | ( Horn, N; Tümer, Z; Tønnesen, T, 1992) |
| "Menkes' disease is an inherited disturbance of copper metabolism." | ( Barth, PG; Bolhuis, PA; Herzberg, NH; van den Berg, GJ; Wolterman, RA, 1990) |
| "Menkes disease is an X-linked recessive disease with an unknown disturbance in the copper-metabolism." | ( Gerdes, AM; Horn, N; Tønnesen, T, 1989) |
| "Menkes' disease is a rare X-linked recessive inherited disorder of copper metabolism characterized by neurodegeneration, peculiar hair, and early death." | ( Baerlocher, K; Nadal, D, 1988) |
| "Six patients with Menkes syndrome are described, who differ from patients with the classical form of Menkes syndrome because of their longer survival; some of them also exhibited a milder manifestation of symptoms." | ( Baerlocher, KE; Gerdes, AM; Güttler, F; Horn, N; Pergament, E; Sander, C; Tønnesen, T; Wartha, R, 1988) |
| "Menkes' disease is an X-linked fatal disorder in which copper accumulates in some organs (intestine and kidney) and is low in others (liver and brain)." | ( Prohaska, JR, 1986) |
| "Menkes kinky hair syndrome is an X-linked neurodegenerative disorder, causing tissue-specific increases in copper and metallothionein content." | ( Karin, M; O'Toole, C; Packman, S; Palmiter, RD, 1987) |
| "Menkes' kinky hair syndrome is a lethal X-linked disorder marked by tissue-specific increases in copper content." | ( O'Toole, C; Packman, S, 1984) |
| "Menkes disease is an X-linked recessive disorder of copper metabolism." | ( Gahl, WA; Kaler, SG, 1993) |
| "Menkes disease is an X linked recessive disorder of copper metabolism characterised by neurological symptoms and connective tissue manifestations." | ( Böhmann, J; Horn, N; Marg, W; Tümer, Z; Tønnesen, T, 1994) |
| "The Menkes or kinky hair disease is a rare, sex-linked systemic disorder of the copper metabolism." | ( Gyurcsik, A; Kiss, A; Lombay, B; Nagy, K; Simkó, R; Váradi, K; Velkey, I, 1994) |
| "Menkes syndrome is an X-chromosome invariably fatal disease that results from aberrant copper metabolism." | ( Nucifora, G; Phung, LT; Silver, S, 1993) |
| "Menkes disease is an X-linked genetic disorder of copper transport that results in death from severe progressive neurodegeneration by the age of 3 years." | ( Clarke, JT; Lingertat-Walsh, K; Sarkar, B, 1993) |
| "Menkes disease is a rare, sex-linked recessive disorder characterized by kinky hair, convulsion, mental retardation, bone and connective tissue lesions, and hypothermia." | ( Mori, K; Shindo, K; Shingu, K; Sugimoto, M, 1993) |
| "Menkes' disease is an X-linked recessive disorder characterized by accumulation of copper in various organs and cells, such as the intestine, kidney, and cultured fibroblasts." | ( Abe, T; Kodama, H; Kodama, M; Nishimura, M; Takahashi, I; Takama, M, 1993) |
| "Recent studies on Menkes disease are reviewed, focusing especially on copper transport in the cells." | ( Kodama, H, 1993) |
| "Menkes' disease is also a genetic disease affecting the newborn." | ( Blincoe, C, 1993) |
| "Menkes disease is an X-linked disorder of copper transport characterized by progressive neurological degeneration and death in early childhood." | ( Gitschier, J; Levinson, B; Packman, S; Vulpe, C; Whitney, S, 1993) |
| "Wilson disease and Menkes disease are the inherited diseases caused by genetic defects in copper metabolism." | ( Aoki, T; Ozawa, M, 1996) |
| "Classical Menkes disease is a fatal X-linked neurodegenerative disorder caused by defects in a gene (MNK) that encodes a copper-transporting ATPase." | ( Das, S; Gahl, WA; Goldstein, DS; Holmes, CS; Kaler, SG; Levinson, B; Packman, S; Patronas, NJ, 1996) |
| "Menkes disease is a fatal neurodegenerative disorder of childhood due to the absence or dysfunction of a putative copper-transporting P-type ATPase encoded on the X chromosome." | ( Gitlin, JD; Heiny, ME; Suzuki, M; Yamaguchi, Y, 1996) |
| "Menkes disease is an X-linked disorder of copper metabolism." | ( Kurasaki, M; Okabe, M; Suzuki-Kurasaki, M, 1997) |
| "Menkes syndrome is an X-linked genetic copper deficiency that is usually fatal in early childhood." | ( Mercer, JF, 1998) |
| "Menkes disease is a genetic disorder of copper metabolism." | ( Beerens, CE; Havelaar, AC; Kleijer, WJ; Mancini, GM; Verheijen, FW, 1998) |
| "Menkes' disease is a fatal, X-linked, copper deficiency disorder that results from defective copper efflux from intestinal cells and inadequate copper delivery to other tissues, leading to deficiencies of critical copper-dependent enzymes." | ( Brooks, H; Camakaris, J; Englezou, A; Firth, SD; Greenough, M; Howie, M; La Fontaine, SL; Lockhart, PJ; Mercer, JF; Petris, MJ; Reddel, RR; Theophilos, MB, 1998) |
| "Menkes disease is an X-linked, recessive disorder of copper metabolism that occurs in approximately 1 in 200,000 live births." | ( Dameron, CT; Harrison, MD, 1999) |
| "Menkes disease is an X-linked recessive disorder of the copper membrane transport system caused by mutations to the Menkes (MNK) gene." | ( Kanazawa, M; Kogo, T; Kohno, Y; Ogawa, A; Takayanagi, M; Yamamoto, S, 1999) |
| "Menkes disease is an X-linked copper deficiency disorder that results from mutations in the ATP7A ( MNK ) gene." | ( Brooks, H; Camakaris, J; Firth, SD; La Fontaine, S; Lockhart, PJ; Mercer, JF, 1999) |
| "Menkes disease is a fatal X-linked disorder of copper metabolism." | ( Francis, MJ; Goodyer, ID; Jones, EE; Monaco, AP, 1999) |
| "Menkes disease is an X-linked disorder of copper metabolism." | ( Ambrosini, L; Mercer, JF, 1999) |
| "Menkes disease is a neurodegenerative disease with X-linked recessive inheritance." | ( Kobayashi, M; Kodama, H; Murata, Y, 1999) |
| "Menkes disease is an X-linked recessive copper deficiency disorder caused by mutations in the ATP7A ( MNK ) gene which encodes a copper transporting P-type ATPase (MNK)." | ( Mercer, JF; Petris, MJ, 1999) |
| "This suggests other copper transport diseases are yet to be discovered." | ( Cox, DW, 1999) |
| "Menkes disease is a rare X-linked recessive disease of copper metabolism." | ( Halpin, S; Jayawant, S; Wallace, S, 2000) |
| "Menkes disease is an X-linked recessive copper deficiency disorder caused by mutations in the ATP7A (MNK) gene." | ( Mercer, JF; Petris, MJ; Strausak, D, 2000) |
| "Menkes disease is a severe multisystem disorder due to defective bioavailability and transport of copper at the cellular level." | ( Boneh, A; Kanumakala, S; Zacharin, M, 2002) |
| "Wilsons and Menkes diseases are two such cases." | ( Daniel, KG; Dou, QP; Guida, WC; Harbach, RH, 2004) |
| "Menkes disease is a disorder of copper transport that results in early death." | ( Hamasaki, Y; Kodama, H; Matsuo, M; Tasaki, R, 2005) |
| "Menkes disease is a fatal disease that can be induced by various mutations in the ATP7A gene, leading to unpaired uptake of dietary copper." | ( Banci, L; Bertini, I; Cantini, F; Migliardi, M; Rosato, A; Wang, S, 2005) |
| "Classical Menkes disease is an X-linked recessive neurodegenerative disorder caused by mutations in a P-type ATPase (ATP7A) that normally delivers copper to the developing central nervous system." | ( Brinster, LR; Centeno, JA; Godwin, SC; Kaler, SG; Lal, S; Lem, KE; Liu, PC; Lizak, M; Tjurmina, O, 2007) |
| "Menkes disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein." | ( Agertt, F; Bruck, I; Crippa, AC; Lorenzoni, PJ; Paola, Ld; Scola, RH; Silvado, CE; Werneck, LC, 2007) |
| "Menkes disease is a rare X-linked disorder due to a defect in intracellular copper transport." | ( Guiraud, P; Labarthe, F; Maury, A; Payen, V; Saliba, E; Toutain, A, 2007) |
| "Menkes disease is an X-linked recessive disorder characterized by neurological deterioration, failure to thrive, peculiar hair and death in childhood, secondary to mutations in the ATP7A gene." | ( Aldenhoven, M; de Koning, TJ; Klomp, LW; van Hasselt, PM; Visser, G, 2007) |
| "Menkes disease is caused by mutations in the copper-transporting P(1B)-type ATPase ATP7A." | ( Bertini, I; Rosato, A, 2008) |
| "Menkes disease is a fatal neurodegenerative disorder of infancy caused by diverse mutations in a copper-transport gene, ATP7A." | ( Donsante, A; Godwin, SC; Goldstein, DS; Holmes, CS; Kaler, SG; Liew, CJ; Patronas, N; Sato, S; Tang, J, 2008) |
| "Menkes disease is a fatal neurodegenerative disorder of infancy caused by defects in an X-linked copper transport gene, ATP7A." | ( Desai, V; Donsante, A; Kaler, SG; Patronas, N; Tang, J, 2008) |
| "Menkes disease is an X-linked recessive neurodevelopmental disorder resulting from mutation in a copper-transporting ATPase gene." | ( Goldstein, DS; Holmes, CS; Kaler, SG, 2009) |
| "Menkes disease is an effect of ATP7A gene mutation in humans, coding the Cu-ATP-ase which is essential in intestinal copper absorption and its subsequent transfer to circulation." | ( Kowal, M; Lenartowicz, M; Styrna, J; Tylko, G; Windak, R, 2010) |
| "Menkes disease is a rare sex-linked disorder of copper absorption and metabolism." | ( Baba, H; Furutani, K; Hashimoto, T; Taneoka, M; Tobita, T; Yoshida, T, 2010) |
| "Menkes disease is a lethal infantile neurodegenerative disorder of copper metabolism caused by mutations in a P-type ATPase, ATP7A." | ( Brinster, LR; Centeno, JA; Donsante, A; Goldstein, DS; Kaler, SG; Prohaska, J; Rushing, E; Sullivan, P; Yi, L; Zerfas, PM, 2011) |
| "Menkes disease is a lethal X-linked recessive neurodegenerative disorder of copper transport caused by mutations in ATP7A, which encodes a copper-transporting ATPase." | ( Centeno, JA; Gahl, WA; Goldstein, DS; Haddad, MR; Holmes, CS; Jacobson, BE; Kaler, SG; Macri, CJ; Popek, EJ, 2012) |
| "Menkes disease is a fatal neurodegenerative disorder in infants caused by mutations in the gene ATP7A which encodes a copper (Cu) transporter." | ( Chrząścik, K; Koteja, P; Krzeptowski, W; Lenartowicz, M; Møller, LB, 2012) |
| "The prognosis in Menkes disease is associated with early detection, early initiation of treatment and with the preservation of some ATP7A activity, which is necessary for Cu-His treatment response." | ( Baeza, I; de León-García, C; Henrríquez-Esquíroz, JM; León-García, G; Pérez-González, C; Santana, A; Villegas-Sepúlveda, N; Wong, C, 2012) |
| "Menkes disease is a lethal neurodegenerative disorder of infancy caused by mutations in a copper-transporting adenosine triphosphatase gene, ATP7A." | ( Brinster, LR; Donsante, A; Goldstein, DS; Kaler, SG; Sullivan, P, 2013) |
| "Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene." | ( De Bie, S; De Paepe, A; Heiberg, A; Lund, K; Martins, M; Møller, LB; Silva, J; Skjørringe, T; Yasmeen, S, 2014) |
| "Menkes disease is a lethal X-linked recessive disorder of copper metabolism caused by mutations in ATP7A, a copper-transporting ATPase with diverse and important biological functions." | ( Holmes, CS; Kaler, SG, 2013) |
| "Menkes disease is due to a dysfunction of ATP7A, but the pathophysiology of neurologic manifestation is poorly understood during embryonic development." | ( Choi, JH; Han, YM; Helfman, DM; Kim, D; Kim, H; Lee, BH; Suh, JH; Yoo, HW, 2014) |
| "Menkes disease is a lethal disorder associated with copper metabolism." | ( Iijima, K; Koda, T; Kodama, H; Kusunoki, N; Lee, T; Matsuo, K; Miwa, A; Morioka, I; Nagasaka, M; Shibata, A; Takeshima, Y; Yagi, M; Yokota, T, 2015) |
| "Menkes disease is a very rare X-linked copper metabolism disorder that results from an ATP7A gene mutation." | ( Cheon, CK; Choi, JH; Kim, GH; Kim, JH; Kim, YM; Lee, BH; Yoo, HW, 2015) |
| "Menkes disease is an X-linked recessive disorder of brain copper metabolism caused by mutations in an essential mammalian copper transport gene, ATP7A." | ( Kaler, SG, 2014) |
| "Menkes disease is a rare neurodegenerative disorder caused by mutations in ATP7A gene." | ( Chiu, NC; Chuang, CK; Ho, CS; Hsu, CH; Lin, HY; Lin, JL; Lin, SP; Lin, YJ; Tsai, JD, 2017) |
| "Menkes disease is a fatal neurodegenerative disorder arising from a systemic copper deficiency caused by loss-of-function mutations in a ubiquitously expressed copper transporter, ATP7A." | ( Gitlin, JD; Hodgkinson, VL; Ladomersky, E; Lee, J; Nickelson, K; Petris, MJ; Wang, Y; Weisman, GA; Zhu, S, 2015) |
| "Menkes disease is an X linked recessive disorder with copper deficiency and Wilson disease is an autosomal recessive disorder with copper accumulation." | ( Shimizu, N, 2016) |
| "Menkes disease is associated with severe copper deficiency, and there is no effective treatment." | ( Kodama, H, 2018) |
| "Menkes disease is a severe X-linked recessive disorder caused by a defect in the ATP7A gene, which encodes a membrane copper-transporting ATPase." | ( Flachsová, E; Hansíková, H; Králík, L; Martásek, P; Saudek, V; Zeman, J, 2017) |
| "Menkes disease is a rare neurodegenerative metabolic disease with a reported incidence of 1 per 300 000 live births." | ( Kohli, N; Rangarh, P, 2018) |
| "Menkes disease is a copper metabolism disorder caused by mutations in ATP7A, a copper-transporting P-type ATPase." | ( Kimura, K; Kodama, H; Kure, S; Maruyama, K; Munakata, M; Sakamoto, Y; Takahashi, H; Tani, N, 2018) |
| "Menkes disease is a rare X-linked neurodegenerative disorder caused by defect in copper metabolism." | ( Chwal, BC; de Freitas Lopes, AC; Ferreira, MAP; Perini, S; Saute, JAM; Vairo, FPE, 2019) |
| "Menkes disease is a neurodegenerative and lethal pathology caused by gene mutations of the copper-transporting ATP-7A enzyme; it manifests itself by neurological symptoms and connective tissue changes of varying severity." | ( Flores-Pulido, AA; García-Chong, NR; Jiménez-Pérez, VM, 2019) |
| "Menkes disease is an X-linked recessive inherited disease caused by pathogenic variants in ATP7A, which leads to profound copper deficiency." | ( Hurst, A; Lose, E; Mikhail, FM; Philips, JB; Stoops, C; Woodfin, T, 2019) |