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Literature DB >> 1956061

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

Abstract

We have investigated two previously published atypical Menkes patients with 64Cu uptake and retention studies. Both of these analyses gave significantly increased results in the range seen for classical Menkes patients. 64Cu uptake analyses on female relatives gave the same uptake pattern as seen for other families with classical Menkes disease.

Entities: Chemical Disease Species

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Year: 1991 PMID： 1956061 PMCID： PMC1015793 DOI： 10.1136/jmg.28.9.615

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

17 in total

1. Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism.

Authors: T Tønnesen; N Horn
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

2. Letter: Intravenous copper in Menkes' kinky-hair syndrome.

Authors: H Wehinger; I Witt; I Lösel; G Denz-Seibert; C Sander
Journal: Lancet Date: 1975-05-17 Impact factor: 79.321

3. Detection of metabolic carcinogen intermediates in urine of carcinogen-fed rats by means of bacterial mutagenesis.

Authors: B Commoner; A J Vithayathil; J I Henry
Journal: Nature Date: 1974-06-28 Impact factor: 49.962

4. A mild form of Menkes steely hair syndrome.

Authors: P Procopis; J Camakaris; D M Danks
Journal: J Pediatr Date: 1981-01 Impact factor: 4.406

5. An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease.

Authors: R H Haas; A Robinson; K Evans; P T Lascelles; V Dubowitz
Journal: Neurology Date: 1981-07 Impact factor: 9.910

2. Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

Authors: Marianne Paulsen; Connie Lund; Zarqa Akram; Jakob R Winther; Nina Horn; Lisbeth Birk Møller
Journal: Am J Hum Genet Date: 2006-06-05 Impact factor: 11.025

Review 3. Recent developments in Menkes disease.

Authors: H Kodama
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982

3 in total

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

1. Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism.

2. Letter: Intravenous copper in Menkes' kinky-hair syndrome.

3. Detection of metabolic carcinogen intermediates in urine of carcinogen-fed rats by means of bacterial mutagenesis.

4. A mild form of Menkes steely hair syndrome.

5. An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease.

6. Atypical Menkes steely hair disease.

7. Urologic abnormalities in Menkes' syndrome.

8. CT manifestations of Menkes' kinky hair syndrome (trichopoliodystrophy).

9. Variability in clinical expression of Menkes syndrome.

10. Copper-measurement in a muscle-biopsy. A possible method for postmortem diagnosis of Menkes disease.

Review 1. Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.

2. Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

Review 3. Recent developments in Menkes disease.