[1] Ahuja A, Dev K, Tanwar RS, et al.Copper mediated neurological disorder: visions into amyotrophic lateral sclerosis,Alzheimer and Menkes disease[J]. J Trace Elem Med Biol, 2015, 29:11-23.
[2] Ojha R, Prasad AN.Menkes disease: what a multidisciplinary approach can do[J]. J Multidiscip Healthc, 2016, 9: 371-385.
[3] 张培元,张玉琴.Menkes病继发癫痫:五例报告并文献复习[J].中国现代神经疾病杂志,2014,14(12):1074-1080.
[4] Bahi-Buisson N, Kaminska A, Nabbout R, et al.Epilepsy in Menkes disease: analysis of clinical stages[J]. Epilepsia, 2006, 47(2):380-386.
[5] Verma A, Menghani K.Menkes Kinky Hair Disease[J]. Indian Pediatr, 2016, 53(1):86.
[6] 程晓悦,肖江喜,袁新宇,等.Menkes病的MR影像表现[J].中华放射学杂志,2013,47(7):599-602.
[7] Gourdon P, Sitsel O, Karlsen JL, et al.Structural models of the human copper P-type ATPases ATP7A and ATP7B[J]. Biol Chem, 2012, 393(4): 205-216.
[8] 邓艳华. Menkes病的研究进展[J].分子诊断与治疗杂志,2010, 2(6): 424-427.
[9] 黄艳,刘光华,王世彪,等.一例Menkes病患儿的基因变异分析[J].中华医学遗传学杂志,2020, 37(4): 479-482.
[10] 王爽,李典.Menkes病临床及实验室特点与基因诊断[J].中华实用儿科临床杂志,2016,31(10):787-791.
[11] Verma A, Menghani K.Menkes Kinky Hair Disease[J]. Indian Pediatr, 2016, 53(1):86.
[12] Cao B, Yang X, Jiang Y, et al.Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease[J]. Metab Brain Dis, 2017, 32(4): 1123-1131. |
