Literature DB >> 16939759

Brachial artery aneurysms in Menkes disease.

Sarah C Godwin1, Thomas Shawker, Benjamin Chang, Stephen G Kaler.   

Abstract

Generalized vascular tortuosity caused by deficiency of the copper enzyme lysyl oxidase is frequently noted in Menkes disease, but reported examples of peripheral aneurysms are rare. We describe bilateral brachial artery aneurysms in a 10-month-old infant with classical Menkes disease.

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Year:  2006        PMID： 16939759     DOI： 10.1016/j.jpeds.2006.05.041

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  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.  Cervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuse.

Authors:  Suvimol C Hill; Andrew J Dwyer; Stephen G Kaler
Journal:  Pediatr Radiol       Date:  2012-07-24

Review 3.  Inborn errors of copper metabolism.

Authors:  Stephen G Kaler
Journal:  Handb Clin Neurol       Date:  2013

4.  Bone marrow from blotchy mice is dispensable to regulate blood copper and aortic pathologies but required for inflammatory mediator production in LDLR-deficient mice during chronic angiotensin II infusion.

Authors:  Devon Harris; Yuanyuan Liang; Cang Chen; Senlin Li; Om Patel; Zhenyu Qin
Journal:  Ann Vasc Surg       Date:  2014-10-29       Impact factor: 1.466

5.  Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.

Authors:  V Desai; A Donsante; K J Swoboda; M Martensen; J Thompson; S G Kaler
Journal:  Clin Genet       Date:  2011-02       Impact factor: 4.438

6.  Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain.

Authors:  Anthony Donsante; Paul Johnson; Laura A Jansen; Stephen G Kaler
Journal:  Am J Med Genet A       Date:  2010-10       Impact factor: 2.802

7.  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

8.  Management of brachial artery aneurisms in infants.

Authors:  Olivier N Pagès; Francesca Alicchio; Boris Keren; Saidou Diallo; Francis Lefebvre; Jean S Valla; Marie L Poli-Merol
Journal:  Pediatr Surg Int       Date:  2008-03-11       Impact factor: 1.827

Review 9.  Translational research investigations on ATP7A: an important human copper ATPase.

Authors:  Stephen G Kaler
Journal:  Ann N Y Acad Sci       Date:  2014-04-15       Impact factor: 5.691

10.  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
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