(Q33728164)

28 July 2017

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title

Menkes disease and Wilson disease: two sides of the same copper coin. Part I: Menkes disease (English)

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28 July 2017

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Menkes JH

1

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28 July 2017

1 January 1999

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European Journal of Paediatric Neurology

28 July 2017

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28 July 2017

3

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28 July 2017

4

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28 July 2017

147-158

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Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

28 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Isolation of a partial candidate gene for Menkes disease by positional cloning

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Molecular structure of the Menkes disease gene (ATP7A)

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Molecular mechanisms of copper metabolism and the role of the Menkes disease protein.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

A Golgi localization signal identified in the Menkes recombinant protein

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https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

The mottled gene is the mouse homologue of the Menkes disease gene

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Primary defect in copper transport underlies mottled mutants in the mouse

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https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Biochemical study on the critical period for treatment of the mottled brindled mouse.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Copper metabolism in the macular mutant mouse: an animal model of Menkes's kinky-hair disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Cellular copper transport

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https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Menkes disease: recent advances and new aspects

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Uptake and efflux of copper-64 in Menkes'-disease and normal continuous lymphoid cell lines

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Muscle cell cultures in Menkes' disease: copper accumulation in myotubes

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Metallothionein messenger RNA regulation in the mottled mouse and Menkes kinky hair syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Comparisons of copper deficiency states in the murine mutants blotchy and brindled. Changes in copper-dependent enzyme activity in 13-day-old mice

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

The biosynthesis of neuropeptides: peptide alpha-amidation

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Trichopoliodystrophy. I. Report of a case and biochemical studies

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Cytochrome C oxidase deficiency and neuronal involvement in Menkes' kinky hair disease: immunohistochemical study

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Increase of flux control of cytochrome c oxidase in copper-deficient mottled brindled mice

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes and mottled mouse fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

X-ray microanalysis of melanin granules of retinal pigment epithelium and choroid in hereditary copper deficient mice (macular mice)

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Nature of copper and zinc compounds in tissues from a patient with Menkes kinky hair syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Cerebellar superoxide dismutase expression in Menkes' kinky hair disease: an immunohistochemical investigation

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Ultrastructural analysis of skin and aorta from a patient with Menkes disease

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https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Roles for iron and copper in connective tissue biosynthesis

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

A comparative immunocytochemical study of human cerebellar cortex in X-chromosome-linked copper malabsorption (Menkes' kinky hair disease) and granule cell type cerebellar degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

The ocular pathology of Menkes' disease. (Kinky hair disease)

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Incidence of Menkes disease

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Menkes's steely hair syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Urologic Abnormalities in Menkes’ Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Radiological Findings in the Kinky-Hair Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Menkes' kinky hair disease

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Kinky hair syndrome: serial study of radiological findings with emphasis on the similarity to the battered child syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Spectrum of EEG findings in Menkes disease.

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https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Menkes' disease: neurophysiological aspects

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https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Letter: Immunodeficiency and steely hair

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Liver copper storage and transport during development: implications for cytotoxicity

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Copper infusion therapy in trichopoliodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Variability in clinical expression of Menkes syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Pili torti as marker for carriers of Menkes disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Menkes syndrome in a girl with X-autosome translocation

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Clinical expression of Menkes syndrome in females

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

First trimester prenatal diagnosis of Menkes disease by DNA analysis.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Prenatal diagnosis of Menkes disease by mutation analysis

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

A familial syndrome of deafness, alopecia, and hypogonadism.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Congenital pilar defect showing features of pili tori

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Trichothiodystrophy with sideroblastic anaemia and developmental delay

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Type IX Ehlers-Danlos syndrome. A new variant with pathognomonic radiographic features

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

A mild form of Menkes steely hair syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Atypical Menkes steely hair disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

A hereditary disorder with dementia, spastic dysarthria, vertical eye movement paresis, gait disturbance, splenomegaly, and abnormal copper metabolism.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

An unusual neurological disorder of copper metabolism clinically resembling Wilson's disease but biochemically a distinct entity

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

An unusual neurological disorder with abnormal copper metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Atypical form of Menkes kinky hair disease with mitochondrial NADH-CoQ reductase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Clinical and biochemical aspects of trichopoliodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Further characterization of the process of in vitro uptake of radiolabeled copper by the rat brain

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Clinical and biochemical consequences of copper-histidine therapy in Menkes disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Copper-histidine therapy for Menkes disease

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Early copper therapy in classic Menkes disease patients with a novel splicing mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

Early copper-histidine treatment for Menkes disease

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2899%2990048-X

7 January 2021

10.1016/S1090-3798(99)90048-X

Identifiers

DOI

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28 July 2017

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PubMed ID

10476363