(Q35243909)

7 August 2017

1 reference

title

Menkes disease: an X-linked neurological disorder of the copper metabolism (English)

1 reference

7 August 2017

0 references

1 reference

neurological disorder

1 reference

3

Z. Tümer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1341968

16 September 2022

author name string

Tønnesen T

series ordinal

2

1 reference

7 August 2017

N. Horn

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1341968

16 September 2022

T. Tønnesen

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1341968

16 September 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1341968

16 September 2022

publication date

1 October 1992

1 reference

7 August 2017

1 reference

7 August 2017

2

1 reference

7 August 2017

351-362

1 reference

7 August 2017

4

1 reference

Menkes' kinky hair disease

7 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Bladder Diverticula and Menkes' Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

CT scans in Menkes disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Atypical Menkes steely hair disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Alterations in copper and collagen metabolism in Menkes' syndrome and a new subtype of Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

X-linked genetic homologies between mouse and man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Extra-hepatic storage of copper: a male foetus suspected of Menkes' disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Letter: Copper and steely hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes' disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Menkes disease: a biochemical abnormality in cultured human fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Chromosomal location of human metallothionein genes: implications for Menkes' disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

The metallothionein-I gene maps to mouse chromosome 8: implications for human Menkes' disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Menkes' disease: abnormal metallothionein gene regulation in response to copper.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Copper transport: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

A defect in catecholamine metabolism in kinky-hair disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Trichopoliodystrophy. I. Report of a case and biochemical studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Lipid composition in gray and white matter of the brain in Menkes' disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Menkes' disease--a new leucodystrophy (?). A clinical and neuropathological review together with a new case

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Menkes' disease--a hypothesis with recommandations for future investigations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Cerebral malformation associated with metabolic disorder. A report of 2 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

The cellular pathology of Menkes steely hair syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Polydendritic Purkinje cells in X-chromosome linked copper malabsorption: a Golgi study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Fine structure of the cerebellar cortex in Menkes Kinky-hair disease. X-chromosome-linked copper malabsorption

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Trichopoliodystrophy. II. Pathological changes in skeletal muscle and nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Human copper deficiency: ultrastructural studies of the aorta and skin in a child with Menkes' syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Experience with first trimester prenatal diagnosis of Menkes disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Copper infusion therapy in trichopoliodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Clinical and biochemical aspects of trichopoliodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Incidence of Menkes disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Genetic epidemiology of Menkes disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Evidence that the Menkes locus maps on proximal Xp.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Menkes kinky hair disease: a search for closely linked restriction fragment length polymorphism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

A method for difference cloning: gene amplification following subtractive hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00711.X

10.1111/J.1750-3639.1992.TB00711.X

21 January 2018

Identifiers

DOI

1 reference

7 August 2017

1 reference