Literature DB >> 3189407

Atypical Menkes steely hair disease.

J A Westman1, D C Richardson, O M Rennert, G Morrow.   

Abstract

Menkes steely hair disease (MSHD) is a rare disorder which typically results in severe mental retardation and death in early childhood. A 21-month-old boy with an atypical milder form was presented by Procopis et al. [1981]. A second child with the atypical form is presented here who has survived to age 9 years and is doing well clinically.

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Year:  1988        PMID: 3189407     DOI: 10.1002/ajmg.1320300324

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  7 in total

Review 1.  Menkes disease: recent advances and new aspects.

Authors:  Z Tümer; N Horn
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

2.  The mild form of menkes disease: a 34 year progress report on the original case.

Authors:  M C Tchan; B Wilcken; J Christodoulou
Journal:  JIMD Rep       Date:  2012-10-13

Review 3.  Menkes disease.

Authors:  A Bankier
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

4.  Sibling cases of a degenerative neurological disease associated with hypocupraemia and hypobetalipoproteinaemia.

Authors:  Y Iwakawa; M Shimohira; J Kohyama; H Kodama
Journal:  Eur J Pediatr       Date:  1993-04       Impact factor: 3.183

5.  High 64Cu uptake and retention values in two clinically atypical Menkes patients.

Authors:  T Tønnesen; C Garrett; A M Gerdes
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

6.  Variability in clinical expression of Menkes syndrome.

Authors:  A M Gerdes; T Tønnesen; E Pergament; C Sander; K E Baerlocher; R Wartha; F Güttler; N Horn
Journal:  Eur J Pediatr       Date:  1988-11       Impact factor: 3.183

Review 7.  Menkes disease: what a multidisciplinary approach can do.

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

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