Results 171 to 180 of about 9,332,063 (205)

Elesclomol alleviates Menkes pathology and mortality by escorting Cu to cuproenzymes in mice

Science, 2020
Liam M Guthrie, Shivatheja Soma, Sai Yuan   +2 more
exaly  

Menkes Disease Mimicking Child Abuse

Pediatric dermatology, 2017
Rebecca J. Droms, J. Rork, Riley McLean, Madelena Martin, Leah T. Belazarian, K. Wiss   +5 more
semanticscholar   +1 more source

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

Nature Genetics, 1993
C. Vulpe, B. Levinson, S. Whitney, S. Packman, J. Gitschier   +4 more
semanticscholar   +1 more source

Menkes disease and other ATP7A disorders

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, 2020
J. Pascual, J. Menkes
semanticscholar   +1 more source

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

Nature Genetics, 1993
R. Tanzi, K. Petrukhin, I. Chernov, J. Pellequer, W. Wasco, B. Ross, D. M. Romano, E. Parano, L. Pavone, L. Brzustowicz, M. Devoto, J. Peppercorn, A. Bush, I. Sternlieb, M. Pirastu, J. Gusella, O. Evgrafov, G. Penchaszadeh, B. Honig, I. Edelman, M. Soares, I. Scheinberg, T. Gilliam   +22 more
semanticscholar   +1 more source

Menkes Disease

2018
Lenora M. Lehwald, John H. Menkes
openaire   +1 more source

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes

Journal of Medical Genetics, 2007
Patricia A J Muller, Cisca Wijmenga
exaly  

Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease

Metabolic brain disease, 2017
B. Cao, Xiaoping Yang, Yinyin Chen, Qionghui Huang, Ye Wu, Q. Gu, Jiangxi Xiao, Huixia Yang, H. Pan, Junya Chen, Yu Sun, Li Ren, Chengfeng Zhao, Yan Deng, Yanling Yang, X. Chang, Zhixian Yang, Yuehua Zhang, Zhengping Niu, Ju-li Wang, Xi-ru Wu, Jingmin Wang, Yuwu Jiang   +22 more
semanticscholar   +1 more source

Ratiometric two-photon microscopy reveals attomolar copper buffering in normal and Menkes mutant cells

Proceedings of the National Academy of Sciences of the United States of America, 2019
Michael Thomas Morgan, Shefali Harankhedkar, Stephanie A Zlatic   +2 more
exaly  

Menkes disease

2004
Tümer, Zeynep A, Horn, N.
openaire   +1 more source