In utero copper treatment for Menkes disease associated with a severe ATP7A mutation-Reference-Cited by-同舟云学术

In utero copper treatment for Menkes disease associated with a severe ATP7A mutation

Published:2012-09 Issue:1-2 Volume:107 Page:222-228
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Haddad Marie Reine,Macri Charles J.,Holmes Courtney S.,Goldstein David S.,Jacobson Beryl E.,Centeno Jose A.,Popek Edwina J.,Gahl Willam A.,Kaler Stephen G.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference34 articles.

1. S.G. Kaler, S. Packman, Inherited disorders of human copper metabolism, In: D.L. Rimoin, J.M. Connor, R.E. Pyeritz, B.R. Korf (Eds.), Emery and Rimoin's Principles and Practice of Medical Genetics (6th edition). Churchill Livingstone/Elsevier, New York (in press).

2. The neurology of ATP7A copper transporter disease: emerging concepts and future trends;Kaler;Nat. Rev. Neurol.,2011

3. Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain;Donsante;Am. J. Med. Genet. A,2010

4. Predictive value of plasma catechol levels in neonatal detection of Menkes disease;Kaler;J. Inherit. Metab. Dis.,1993

5. Invited commentary: the prenatal diagnosis of Menkes disease;Kaler;Prenat. Diagn.,1998

Cited by 21 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. Development of a polymeric test kit based on the release of a selective chemosensor for the quantitative analysis of Cu(II) in aqueous samples;Materials Science and Engineering: B;2024-01

2. Pyrene-Based Fluorescent Probe for “Off-on-Off” Sequential Detection of Cu2+ and CN− with HeLa Cells Imaging;Chemosensors;2023-02-04

3. Menkes disease and other ATP7A disorders;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020

4. Cerebral vasculopathies;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020

5. Chelating principles in Menkes and Wilson diseases;Journal of Inorganic Biochemistry;2019-01