Literature DB >> 7452417

A mild form of Menkes steely hair syndrome.

P Procopis, J Camakaris, D M Danks.   

Abstract

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Year:  1981        PMID： 7452417     DOI： 10.1016/s0022-3476(81)80551-3

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


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  12 in total

1.  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 2.  Of mice and men, metals and mutations.

Authors:  D M Danks
Journal:  J Med Genet       Date:  1986-04       Impact factor: 6.318

Review 3.  Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.

Authors:  P de Bie; P Muller; C Wijmenga; L W J Klomp
Journal:  J Med Genet       Date:  2007-08-23       Impact factor: 6.318

4.  Neuropathologic study in the heterozygotes of X-linked brindled mutant mouse.

Authors:  H Matsushima; A Okuno; Y Eto; K Maekawa
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

5.  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

6.  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

7.  Menkes' disease: long-term treatment with copper and D-penicillamine.

Authors:  D Nadal; K Baerlocher
Journal:  Eur J Pediatr       Date:  1988-08       Impact factor: 3.183

Review 8.  Mutations in humans and animals which affect copper metabolism.

Authors:  J Camakaris; M Phillips; D M Danks; R Brown; T Stevenson
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

9.  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

10.  Familial benign copper deficiency.

Authors:  K Méhes; E Petrovicz
Journal:  Arch Dis Child       Date:  1982-09       Impact factor: 3.791
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