[1]	Lutsenko S, Roy S, Tsvetkov P. Mammalian copper homeostasis:physiological roles and molecular mechanisms[J]. Physiol Rev, 2025, 105(1):441-491.DOI:10.1152/physrev.00011.2024. Cited in this article [2]

[2]	Ramani PK, Sankaran BP. Menkes disease[M]//StatPearls[Internet]. Treasure Island (FL): StatPearls Publishing, 2023. Cited in this article [6]

[3]	Xu F, Huang H, Shen Q, et al. Phenotypic and mutational spectrum of 17 Chinese patients with Menkes disease[J]. Neurol Sci, 2025, 46(1):437-444.DOI:10.1007/s10072-024-07676-5. Cited in this article [2]

[4]	Kaler SG, Ferreira CR, Yam LS. Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)[J]. Mol Genet Metab Rep, 2020, 24:100602.DOI:10.1016/j.ymgmr.2020.100602. Cited in this article [2]

[5]	Liu Z, Gan Y, Shen Z, et al. Role of copper homeostasis and cuproptosis in heart failure pathogenesis:implications for therapeutic strategies[J]. Front Pharmacol, 2024, 15:1527901. DOI:10.3389/fphar.2024.1527901. Cited in this article [2]

[6]	Sailer J, Nagel J, Akdogan B, et al. Deadly excess copper[J]. Redox Biol, 2024, 75:103256.DOI:10.1016/j.redox.2024.103256. Cited in this article [2]

[7]	Guan M, Cheng K, Xie XT, et al. Regulating copper homeostasis of tumor cells to promote cuproptosis for enhancing breast cancer immunotherapy[J]. Nat Commun, 2024, 15(1):10060.DOI:10.1038/s41467-024-54469-7. Cited in this article [1]

[8]	Fujisawa C, Kodama H, Sato Y, et al. Early clinical signs and treatment of Menkes disease[J]. Mol Genet Metab Rep, 2022, 31:100849.DOI:10.1016/j.ymgmr.2022.100849. Cited in this article [2]

[9]	Zhu J, Liao Y, Li X, et al. Brain and the whole-body bone imaging appearances in Menkes disease:a case report and literature review[J]. BMC Pediatr, 2024, 24(1):411.DOI:10.1186/s12887-024-04885-x. Cited in this article [10]

[10]	Wang YM, Feng LS, Xu A, et al. Copper ions:the invisible killer of cardiovascular disease (Review)[J]. Mol Med Rep, 2024, 30(5):210.DOI:10.3892/mmr.2024.13334. Cited in this article [1]

[11]	Horn N, Wittung-Stafshede P. ATP7A-regulated enzyme metalation and trafficking in the Menkes disease puzzle[J]. Biomedicines, 2021, 9(4):391.DOI:10.3390/biomedicines9040391. Cited in this article [4]

[12]	Rozensztrauch A, Dzien I, Śmigiel R. Health-related quality of life and family functioning of primary caregivers of children with menkes disease[J]. J Clin Med, 2023, 12(5):1769. DOI:10.3390/jcm12051769. Cited in this article [2]

[13]	Ojha R, Prasad AN. Menkes disease:what a multidisciplinary approach can do[J]. J Multidiscip Healthc, 2016, 9:371-385.DOI:10.2147/jmdh.S93454. Cited in this article [3]

[14]	Verrotti A, Carelli A, Coppola G. Epilepsy in children with Menkes disease:a systematic review of literature[J]. J Child Neurol, 2014, 29(12):1757-1764.DOI:10.1177/0883073814541469. Cited in this article [1]

[15]	Pawar NV, Mir FF. Infantile neurodegeneration and hair changes:a rare case of Menkes disease[J]. Dubai Med J, 2022, 5(1):70-73.DOI:10.1159/000521155. Cited in this article [2]

[16]	Means MJ, Santos FJR, Sotardi ST, et al. Menkes disease:clinical presentation and imaging characteristics[J]. Neuropediatrics, 2022, 53(3):218-220.DOI:10.1055/a-1762-0354. Cited in this article [3]

[17]	Júnior RCS, Hammoud SE-L, de Lima Cavassim G, et al. Menkes disease spectrum:a case report[J]. Arq Neuro-Psiquiatr, 2023, 81(S 01):A164.DOI:10.1055/s-0043-1774583. Cited in this article [2]

[18]	Labay-Tejado S, González-Valdivia H, Casas-Gimeno E, et al. Menkes disease with unilateral lacrimal fistula[J]. J Fr Ophtalmol, 2025, 48(4):104441.DOI:10.1016/j.jfo.2025.104441. Cited in this article [2]

[19]	Yoganathan S, Sudhakar SV, Arunachal G, et al. Menkes disease and response to copper histidine:an Indian case series[J]. Ann Indian Acad Neurol, 2017, 20(1):62-68.DOI:10.4103/0972-2327.199907. Cited in this article [1]

[20]	Tümer Z, Petris M, Zhu S, et al. A 37-year-old Menkes disease patient-residual ATP7A activity and early copper administration as key factors in beneficial treatment[J]. Clin Genet, 2017, 92(5):548-553.DOI:10.1111/cge.13083. Cited in this article [1]

[21]	Gasch AT, Caruso RC, Kaler SG, et al. Menkes’ syndrome:ophthalmic findings[J]. Ophthalmology, 2002, 109(8):1477-1483.DOI:10.1016/s0161-6420(02)01095-3. Cited in this article [1]

[22]	Guo Y, Xia W, Peng X, et al. Almost misdiagnosed Menkes disease:a case report[J]. Heliyon, 2022, 8(4):e09268. DOI:10.1016/j.heliyon.2022.e09268. Cited in this article [3]

[23]	Manara R, Rocco MC, D’Agata L, et al. Neuroimaging changes in Menkes disease,Part 2[J]. AJNR Am J Neuroradiol, 2017, 38(10):1858-1865.DOI:10.3174/ajnr.A5192. Cited in this article [1]

[24]	Vendelboe TV, Harris P, Zhao Y, et al. The crystal structure of human dopamine β-hydroxylase at 2.9 Å resolution[J]. Sci Adv, 2016, 2(4):e1500980.DOI:10.1126/sciadv.1500980. Cited in this article [1]

[25]

Kaler SG, Holmes CS. Catecholamine metabolites affected by the copper-dependent enzyme dopamine-beta-hydroxylase provide sensitive biomarkers for early diagnosis of menkes disease and viral-mediated ATP7A gene therapy[J]. Adv Pharmacol, 2013, 68:223-233.DOI:10.1016/b978-0-12-411512-5.00011-7. Cited in this article [1]

[26]	Lu P, Yan HJ, Yang C, et al. High fat suppresses SOD1 activity by reducing copper chaperone for SOD1 associated with neurodegeneration and memory decline[J]. Life Sci, 2021, 272:119243.DOI:10.1016/j.lfs.2021.119243. Cited in this article [1]

[27]

Yokoyama A, Ohno K, Hirano A, et al. Cerebellar expression of copper chaperone for superoxide,cytosolic Cu/Zn-superoxide dismutase,4-hydroxy-2-nonenal,acrolein and heat shock protein 32 in patients with menkes kinky hair disease:immunohistochemical study[J]. Yonago Acta Med, 2014, 57(1):23-35.DOI:10.3109/00365513.2013.869700 Cited in this article [1]

[28]	Xu Y, Jia B, Li J, et al. The interplay between ferroptosis and neuroinflammation in central neurological disorders[J]. Antioxidants (Basel), 2024, 13(4):395.DOI:10.3390/antiox13040395. Cited in this article [1]

[29]	Manara R, D’Agata L, Rocco MC, et al. Neuroimaging changes in Menkes disease,Part 1[J]. AJNR Am J Neuroradiol, 2017, 38(10):1850-1857.DOI:10.3174/ajnr.A5186. Cited in this article [1]

[30]	Kim JH, Lee BH, Kim YM, et al. Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients[J]. Metab Brain Dis, 2015, 30(1):75-81.DOI:10.1007/s11011-014-9569-5. Cited in this article [1]

[31]	Gupta N, Miller E, Bhatia A, et al. Imaging review of pediatric monogenic CNS vasculopathy with genetic correlation[J]. Radiographics, 2024, 44(5):e230087.DOI:10.1148/rg.230087. Cited in this article [1]

[32]	郭玉洁, 张洪伟, 陈叶红, 等. 以游走性惊厥持续状态起病的Menkes病1例[J]. 山东大学学报(医学版), 2023, 61(5):108-112.DOI:10.6040/j.issn.1671-7554.0.2022.1136. Cited in this article [2]

[33]	乔平云, 郑璇, 陈琬, 等. Menkes病的临床、生化、影像及基因特点[J]. 重庆医科大学学报, 2022, 47(3):313-318.DOI:10.13406/j.cnki.cyxb.002994. Cited in this article [2]

[34]	高晶, 郭玉璞, 高淑芳, 等. Menkes病的临床及病理[J]. 中国现代神经疾病杂志, 2006(3):188-193.DOI:10.3969/j.issn.1672-6731.2006.03.010 Cited in this article [2]

[35]	Takeuchi S, Horikawa M, Wakamatsu H, et al. Acute posterior fossa epidural hematoma in a newborn infant with Menkes disease[J]. Pediatr Emerg Care, 2014, 30(2):117-119. DOI:10.1097/pec.0000000000000078. Cited in this article [2]

[36]	Price DJ, Ravindranath T, Kaler SG. Internal jugular phlebectasia in Menkes disease[J]. Int J Pediatr Otorhinolaryngol, 2007, 71(7):1145-1148.DOI:10.1016/j.ijporl.2007.02.021. Cited in this article [1]

[37]	Nakamura Y, Hitaka D, Kido T, et al. Massive thrombosis in internal jugular phlebectasia in Menkes disease[J]. Pediatr Int, 2023, 65(1):e15667.DOI:10.1111/ped.15667. Cited in this article [1]

[38]	Godwin SC, Shawker T, Chang B, et al. Brachial artery aneurysms in Menkes disease[J]. J Pediatr, 2006, 149(3):412-415.DOI:10.1016/j.jpeds.2006.05.041. Cited in this article [1]

[39]	de Figueiredo Borges L, Martelli H, Fabre M, et al. Histopathology of an iliac aneurysm in a case of Menkes disease[J]. Pediatr Dev Pathol, 2010, 13(3):247-251.DOI:10.2350/08-08-0516.1. Cited in this article [2]

[40]	江露, 覃文华, 覃罗晓, 等. Menkes病1例[J]. 中国临床医学影像杂志, 2025, 36(2):145-146.DOI:10.12117/jccmi.2025.02.017. Cited in this article [1]

[41]	Bindu PS, Taly AB, Kothari S, et al. Electro-clinical features and magnetic resonance imaging correlates in Menkes disease[J]. Brain Dev, 2013, 35(5):398-405.DOI:10.1016/j.braindev.2012.07.016. Cited in this article [1]

[42]	Wang H, Poe A, Martinez Yus M, et al. Lysyl oxidase-like 2 processing by factor Xa modulates its activity and substrate preference[J]. Commun Biol, 2023, 6(1):375.DOI:10.1038/s42003-023-04748-8. Cited in this article [1]

[43]	Murakami H, Kodama H, Nemoto N. Abnormality of vascular elastic fibers in the macular mouse and a patient with Menkes’ disease:ultrastructural and immunohistochemical study[J]. Med Electron Microsc, 2002, 35(1):24-30.DOI:10.1007/s007950200003. Cited in this article [1]

[44]	Liu X, Liu H, Wang N, et al. The interactive toxic effect of homocysteine and copper on cardiac microvascular endothelial cells during ischemia-reperfusion injury[J]. Chem Biol Interact, 2025, 408:111387.DOI:10.1016/j.cbi.2025.111387. Cited in this article [1]

[45]	Lv X, Zhao L, Song Y, et al. Deciphering the role of copper homeostasis in atherosclerosis:from molecular mechanisms to therapeutic targets[J]. Int J Mol Sci, 2024, 25(21):11462. DOI:10.3390/ijms252111462. Cited in this article [1]

[46]	Ashino T, Kohno T, Sudhahar V, et al. Copper transporter ATP7A interacts with IQGAP1,a Rac1 binding scaffolding protein:role in PDGF-induced VSMC migration and vascular remodeling[J]. Am J Physiol Cell Physiol, 2018, 315(6):C850-C862.DOI:10.1152/ajpcell.00230.2018. Cited in this article [1]

[47]	Zhou Y, Wu J, Xu J, et al. Identification of a novel ATP7A variant in a Chinese boy with developmental delay and epilepsy[J]. Int J Dev Neurosci, 2025, 85(1):e70001.DOI:10.1002/jdn.70001. Cited in this article [1]

[48]	王玉, 孙熙洋, 王苏悦, 等. Menkes病的临床特点(附1例报告)[J]. 临床神经病学杂志, 2024, 37(1):50-55. DOI:10.3969/j.issn.1004-1648.2024.01.016 Cited in this article [1]

[49]	Sáez-de-Ocariz M, Aguilar-Sarmiento AS, Garcés-Abad MA, et al. Usefulness of trichoscopy over hair light microscopy in Menkes disease[J]. Skin Appendage Disord, 2022, 8(1):57-60.DOI:10.1159/000518368. Cited in this article [1]

[50]	Smpokou P, Samanta M, Berry GT, et al. Menkes disease in affected females:the clinical disease spectrum[J]. Am J Med Genet A, 2015, 167a(2):417-420.DOI:10.1002/ajmg.a.36853. Cited in this article [1]

[51]	Moore CM, Howell RR. Ectodermal manifestations in Menkes disease[J]. Clin Genet, 1985, 28(6):532-540.DOI:10.1111/j.1399-0004.1985.tb00422.x. Cited in this article [1]

[52]	Khalid KA, Nawi AFM, Zulkifli N, et al. Aging and wound healing of the skin:a review of clinical and pathophysiological hallmarks[J]. Life (Basel), 2022, 12(12):2142.DOI:10.3390/life12122142. Cited in this article [1]

[53]	Kim MY, Kim JH, Cho MH, et al. Urological problems in patients with Menkes disease[J]. J Korean Med Sci, 2019, 34(1):e4.DOI:10.3346/jkms.2019.34.e4. Cited in this article [2]

[54]	石晓萌, 路新国. ATP7A基因新发变异致Menkes病1例[J]. 中国医科大学学报, 2021, 50(12):1141-1145.DOI:10.12007/j.issn.0258-4646.2021.12.017. Cited in this article [2]

[55]	Kodama H, Murata Y, Kobayashi M. Clinical manifestations and treatment of Menkes disease and its variants[J]. Pediatr Int, 1999, 41(4):423-429.DOI:10.1046/j.1442-200x.1999.01095.x. Cited in this article [1]

[56]	Zhang Z, Tang H, Du T, et al. The impact of copper on bone metabolism[J]. J Orthop Translat, 2024, 47:125-131.DOI:10.1016/j.jot.2024.06.011. Cited in this article [1]

[57]	Kim D, Choi J, Han KM, et al. Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells[J]. Stem Cell Res Ther, 2015, 6(1):160.DOI:10.1186/s13287-015-0147-5. Cited in this article [1]

[58]	Peng CH, Hsu CH, Wang NL, et al. Spontaneous retroperitoneal hemorrhage in Menkes disease:a rare case report[J]. Medicine (Baltimore), 2018, 97(6):e9869.DOI:10.1097/md.0000000000009869. Cited in this article [1]

[59]	Wang Y, Li D, Xu K, et al. Copper homeostasis and neurodegenerative diseases[J]. Neural Regen Res, 2025, 20(11):3124-3143.DOI:10.4103/nrr.Nrr-d-24-00642. Cited in this article [1]

[60]	Vairo FPE, Chwal BC, Perini S, et al. A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease[J]. Mol Genet Metab, 2019, 126(1):6-13. DOI:10.1016/j.ymgme.2018.12.005. Cited in this article [1]

[61]	Woodfin T, Stoops C, Philips JB,3rd, et al. Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion)[J]. Mol Genet Genomic Med, 2019, 7(8):e829. DOI:10.1002/mgg3.829. Cited in this article [1]

[62]	Zulkifli M, Maremanda KP, Okonkwo AU, et al. Elesclomol rescues mitochondrial copper deficiency in disease models without triggering cuproptosis[J]. J Pharmacol Exp Ther, 2025, 392(2):100048.DOI:10.1016/j.jpet.2024.100048. Cited in this article [1]

[63]	Haddad MR, Choi EY, Zerfas PM, et al. Cerebrospinal fluid-directed rAAV9-rsATP7A plus subcutaneous copper histidinate advance survival and outcomes in a Menkes disease mouse model[J]. Mol Ther Methods Clin Dev, 2018, 10:165-178. DOI:10.1016/j.omtm.2018.07.002. Cited in this article [1]

[64]	Bhakta S, Kodama H, Mimaki M, et al. Restoration of genetic code in macular mouse fibroblasts via APOBEC1-mediated RNA editing[J]. Biomolecules, 2025, 15(1):136.DOI:10.3390/biom15010136. Cited in this article [1]

[65]	Cao B, Yang X, Chen 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. DOI:10.1007/s11011-017-9985-4. Cited in this article [1]