Literature DB >> 189959

Menkes kinky hair syndrome: Is it a treatable disorder?

A D Garnica, J L Frias, O M Rennert.   

Abstract

A male infant with Menkes Kinky Hair Syndrome was treated with a 3-week course of cupric acetate infusions, which was terminated when he developed aminoaciduria. The lack of improvement seen in this infant is representative of the reported experience with parenteral copper therapy in this condition, and may be attributable to the presence of a clinically significant abnormality in copper metabolism in utero.

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Year:  1977        PMID: 189959     DOI: 10.1111/j.1399-0004.1977.tb01294.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  8 in total

1.  Pathological structure of the kidney from adult mice with mosaic mutation.

Authors:  M Lenartowicz; M Kowal; D Buda-Lewandowska; J Styrna
Journal:  J Inherit Metab Dis       Date:  2002-12       Impact factor: 4.982

2.  The failure of parenteral copper therapy in Menkes Kinky Hair syndrome.

Authors:  A D Garnica
Journal:  Eur J Pediatr       Date:  1984-06       Impact factor: 3.183

3.  Copper metabolism in mottled mouse mutants. The effect of copper therapy on lysyl oxidase activity in brindled (Mobr) mice.

Authors:  P M Royce; J Camakaris; J R Mann; D M Danks
Journal:  Biochem J       Date:  1982-02-15       Impact factor: 3.857

4.  Genetic expression of Menkes disease in cultured astrocytes of the macular mouse.

Authors:  H Kodama; Y Meguro; T Abe; M H Rayner; K T Suzuki; S Kobayashi; M Nishimura
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 5.  [Trichopoliodystrophy or Menkes disease].

Authors:  O Dobrescu; A Larbrisseau; L J Dubé; M L Weber
Journal:  Can Med Assoc J       Date:  1980-09-20       Impact factor: 8.262

6.  In vitro assessment of the toxicity of metal compounds : IV. Disposition of metals in cells: Interactions with membranes, glutathione, metallothionein, and DNA.

Authors:  N T Christie; M Costa
Journal:  Biol Trace Elem Res       Date:  1984-04       Impact factor: 3.738

7.  Brindled mottled mouse: morphological changes of brain and visceral organs in hemizygous males following copper supplementation.

Authors:  K Suzuki; H Nagara
Journal:  Acta Neuropathol       Date:  1981       Impact factor: 17.088

8.  Neonatal diagnosis and treatment of Menkes disease.

Authors:  Stephen G Kaler; Courtney S Holmes; David S Goldstein; Jingrong Tang; Sarah C Godwin; Anthony Donsante; Clarissa J Liew; Susumu Sato; Nicholas Patronas
Journal:  N Engl J Med       Date:  2008-02-07       Impact factor: 91.245

  8 in total

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