Successful Early Copper Therapy in Menkes Disease Associated with a Mutant Transcript Containing a Small In-Frame Deletion
Author:
Publisher
Elsevier BV
Subject
Biochemistry
Cited by 60 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
1. Inherited Disorders of Human Copper Metabolism;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021
2. Targeted next generation sequencing for newborn screening of Menkes disease;Molecular Genetics and Metabolism Reports;2020-09
3. Emergent embolization of a ruptured splenic artery aneurysm complicating Menkes disease;Radiology Case Reports;2018-12
4. Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model;Molecular Therapy - Methods & Clinical Development;2018-09
5. The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria;Journal of Biological Chemistry;2016-08
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