Literature DB >> 8419622

Gastrointestinal hemorrhage associated with gastric polyps in Menkes disease.

S G Kaler1, J A Westman, S M Bernes, A M Elsayed, C M Bowe, K L Freeman, C D Wu, M T Wallach.   

Abstract

We describe two infants with Menkes disease who had serious gastrointestinal bleeding from solitary gastric polyps. Hemorrhage in one patient was acute and proved fatal. Histopathologic examinations showed submucosal vascular ectasia with mucosal hyperplasia, edema, and ulceration. Gastric polyps may represent an underappreciated clinical abnormality in Menkes disease.

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Year:  1993        PMID： 8419622     DOI： 10.1016/s0022-3476(05)83496-1

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


  15 in total

1.  Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy.

Authors:  Goro Sasaki; Tomohiro Ishii; Seiji Sato; Ken Hoshino; Yasuhide Morikawa; Hiroko Kodama; Nobutake Matsuo; Takao Takahashi; Tomonobu Hasegawa
Journal:  Eur J Pediatr       Date:  2004-12       Impact factor: 3.183

Review 2.  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

3.  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

4.  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

5.  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 6.  Inborn errors of copper metabolism.

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

Review 7.  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

8.  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

9.  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

Review 10.  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
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