(Q58010202)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16181472%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome (English)

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7 January 2020

1

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7 January 2020

Lourdes Florensa

4

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7 January 2020

author name string

Gilaberte M

2

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7 January 2020

Toll A

3

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7 January 2020

Lloreta J

5

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7 January 2020

González-Enseñat MA

6

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7 January 2020

Fischer J

7

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7 January 2020

Azon A

8

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7 January 2020

language of work or name

English

0 references

publication date

1 October 2005

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British Journal of Dermatology

7 January 2020

published in

1 reference

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7 January 2020

volume

153

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7 January 2020

issue

4

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7 January 2020

page(s)

838-841

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Ichthyosiform dermatosis with systemic lipidosis.

7 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06828.X

Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06828.X

Neutral lipid storage disease--response to dietary intervention

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06828.X

Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06828.X

Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06828.X

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06828.X

The turnover of cytoplasmic triacylglycerols in human fibroblasts involves two separate acyl chain length-dependent degradation pathways.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06828.X

Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06828.X

Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06828.X

CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06828.X

Implications of dietary oils and polyunsaturated fatty acids in the management of cutaneous disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2005.06828.X

10.1111/J.1365-2133.2005.06828.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16181472%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference