Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Menkes disease mutations and response to early copper histidine treatment.

× No keyword cloud information.

17 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

Review 3. 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.

Authors: Stephen G Kaler; Courtney S Holmes
Journal: Adv Pharmacol Date: 2013

4. Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

Authors: Marianne Paulsen; Connie Lund; Zarqa Akram; Jakob R Winther; Nina Horn; Lisbeth Birk Møller
Journal: Am J Hum Genet Date: 2006-06-05 Impact factor: 11.025

5. Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.

Authors: Stephen G Kaler; Clarissa J Liew; Anthony Donsante; Julia D Hicks; Susumu Sato; Jacquelyn C Greenfield
Journal: J Inherit Metab Dis Date: 2010-07-21 Impact factor: 4.982

6. Safety of intracerebroventricular copper histidine in adult rats.

Authors: Kristen E Lem; Lauren R Brinster; Olga Tjurmina; Martin Lizak; Simina Lal; Jose A Centeno; Po-Ching Liu; Sarah C Godwin; Stephen G Kaler
Journal: Mol Genet Metab Date: 2007-03-01 Impact factor: 4.797

7. Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.

Authors: A S Payne; E J Kelly; J D Gitlin
Journal: Proc Natl Acad Sci U S A Date: 1998-09-01 Impact factor: 11.205

8. Internal jugular phlebectasia in Menkes disease.

Authors: David J Price; Thyyar Ravindranath; Stephen G Kaler
Journal: Int J Pediatr Otorhinolaryngol Date: 2007-05-04 Impact factor: 1.675

9. Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.

Authors: Stephen G Kaler
Journal: J Trace Elem Med Biol Date: 2014-08-28 Impact factor: 3.849

10. Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.

Authors: Jingrong Tang; Anthony Donsante; Vishal Desai; Nicholas Patronas; Stephen G Kaler
Journal: Mol Genet Metab Date: 2008-08-26 Impact factor: 4.797