A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment-Reference-Cited by-同舟云学术

A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment

Author:

Tümer Z.¹^ORCID,Petris M.²,Zhu S.²,Mercer J.³,Bukrinski J.⁴,Bilz S.⁵,Baerlocher K.⁶,Horn N.¹,Møller L.B¹

Affiliation:

1. Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics; Copenhagen University Hospital; Glostrup Denmark

2. Department of Biochemistry; University of Missouri; Columbia South Carolina

3. Centre for Cellular and Molecular Biology; Deakin University; Melbourne Australia

4. CMC Assist; Copenhagen Denmark

5. Department of Endocrinology; Kantonsspital St. Gallen; St. Gallen Switzerland

6. Ostschweizerisches Kinderspital; St.Gallen Switzerland

Funder

Sundhed og Sygdom, Det Frie Forskningsr&x00E5;d

Danish Health Insurance Foundation

Danish Biotechnological Research and Development Program

Novo Nordisk Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

Reference18 articles.

3. Copper metabolism, ATP7A and Menkes disease;Pierson;eLS,2015

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

2. Early clinical signs and treatment of Menkes disease;Molecular Genetics and Metabolism Reports;2022-06