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6 in total

Review 1. ATP7A-related copper transport diseases-emerging concepts and future trends.

Authors: Stephen G Kaler
Journal: Nat Rev Neurol Date: 2011-01 Impact factor: 42.937

2. Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype.

Authors: Eun-Young Choi; Keyur Patel; Marie Reine Haddad; Ling Yi; Courtney Holmes; David S Goldstein; Amalia Dutra; Evgenia Pak; Stephen G Kaler
Journal: JIMD Rep Date: 2015-02-01

3. Diagnosis of copper transport disorders.

Authors: Lisbeth B Møller; Julia D Hicks; Courtney S Holmes; David S Goldstein; Cornelia Brendl; Peter Huppke; Stephen G Kaler
Journal: Curr Protoc Hum Genet Date: 2011-07

4. Occipital horn syndrome in a woman: skeletal radiological findings.

Authors: Alberto Bazzocchi; Rayka Femia; Paola Feraco; Giuseppe Battista; Romeo Canini; Giuseppe Guglielmi
Journal: Skeletal Radiol Date: 2011-05-08 Impact factor: 2.199

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

Authors: Marie Reine Haddad; Charles J Macri; Courtney S Holmes; David S Goldstein; Beryl E Jacobson; Jose A Centeno; Edwina J Popek; Willam A Gahl; Stephen G Kaler
Journal: Mol Genet Metab Date: 2012-05-18 Impact factor: 4.797

Review 6. Menkes disease: what a multidisciplinary approach can do.

Authors: Rahul Ojha; Asuri N Prasad
Journal: J Multidiscip Healthc Date: 2016-08-17

6 in total