X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. (Q30460666)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22889154%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management (English)

1 reference

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X-linked adrenoleukodystrophy

11 February 2020

main subject

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2

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11 February 2020

5

Ronald J A Wanders

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11 February 2020

author name string

Marc Engelen

1

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11 February 2020

Marianne de Visser

3

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11 February 2020

Björn M van Geel

4

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11 February 2020

Patrick Aubourg

6

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11 February 2020

Bwee Tien Poll-The

7

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11 February 2020

publication date

13 August 2012

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Orphanet Journal of Rare Diseases

11 February 2020

published in

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11 February 2020

volume

7

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11 February 2020

page(s)

51

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https://scigraph.springernature.com/pub.10.1186/1750-1172-7-51

11 February 2020

exact match

0 references

cites work

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21 January 2018

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12 December 2020

Schilder's disease. Sex-linked recessive transmission with specific adrenal changes

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Adrenoleukodystrophy: clinical and biochemical manifestations in carriers

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12 December 2020

Lovastatin for X-linked adrenoleukodystrophy

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12 December 2020

Familial Addison's disease with spastic paraplegia

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12 December 2020

Addison's Disease in Association with Spastic Paraplegia

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12 December 2020

Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy

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12 December 2020

Signs of testicular insufficiency in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy: a retrospective study

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12 December 2020

Adrenomyeloneuropathy in patients with 'Addison's disease': genetic case analysis

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12 December 2020

Polyneuropathies in teenagers: a clinicopathological study of 45 cases

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12 December 2020

Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture

1 reference

12 December 2020

Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy

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12 December 2020

Late onset white matter disease in peroxisome biogenesis disorder

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12 December 2020

Rapid detection of common autosomal aneuploidies by quantitative fluorescent PCR on uncultured amniocytes

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12 December 2020

Identifiers

DOI

10.1186/1750-1172-7-51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22889154%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 February 2020

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1750-1172-7-51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22889154%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22889154%20AND%20SRC:MED&resulttype=core&format=json