(Q38311990)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25572728%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

review article

1 reference

title

Current advances in the understanding and treatment of mevalonate kinase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25572728%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

6

1 reference

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27 February 2020

Susanna Esposito

1

1 reference

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27 February 2020

author name string

B Ascolese

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25572728%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

L Senatore

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25572728%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

S Bosis

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25572728%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

E Verrecchia

5

1 reference

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27 February 2020

D Rigante

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25572728%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

publication date

1 October 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25572728%20AND%20SRC:MED&resulttype=core&format=json

International Journal of Immunopathology and Pharmacology

27 February 2020

published in

1 reference

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27 February 2020

volume

27

1 reference

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27 February 2020

issue

4

1 reference

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27 February 2020

page(s)

491-498

1 reference

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The fresco of autoinflammatory diseases from the pediatric perspective

27 February 2020

cites work

1 reference

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Hyperimmunoglobulinaemia D and periodic fever: a new syndrome

21 January 2018

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Clinical and biochemical landmarks in systemic autoinflammatory diseases

21 January 2018

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Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level

21 January 2018

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From the Mediterranean to the sea of Japan: the transcontinental odyssey of autoinflammatory diseases

21 January 2018

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Hyperimmunoglobulin D syndrome in childhood

21 January 2018

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Mevalonic aciduria: an inborn error of cholesterol biosynthesis?

21 January 2018

1 reference

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Immunoglobulin D enhances the release of tumor necrosis factor-alpha, and interleukin-1 beta as well as interleukin-1 receptor antagonist from human mononuclear cells

21 January 2018

1 reference

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Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS).

21 January 2018

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The infevers autoinflammatory mutation online registry: update with new genes and functions.

21 January 2018

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Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome

21 January 2018

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Working the endless puzzle of hereditary autoinflammatory disorders

21 January 2018

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A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome

21 January 2018

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Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands

21 January 2018

1 reference

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Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins

21 January 2018

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The plodding diagnosis of monogenic autoinflammatory diseases in childhood: from the clinical scenery to laboratory investigation.

21 January 2018

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First report of macrophage activation syndrome in hyperimmunoglobulinemia D with periodic fever syndrome.

21 January 2018

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Monogenic autoinflammatory syndromes at a dermatological level

21 January 2018

1 reference

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Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F039463201402700404

Mevalonate kinase deficiency: a survey of 50 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F039463201402700404

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F039463201402700404

Mevalonate kinase deficiency: Evidence for a phenotypic continuum.

21 January 2018

1 reference

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Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency

21 January 2018

1 reference

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First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome

21 January 2018

1 reference

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Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children

21 January 2018

1 reference

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Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome

21 January 2018

1 reference

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Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F039463201402700404

Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F039463201402700404

Biological treatments: new weapons in the management of monogenic autoinflammatory disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F039463201402700404

Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F039463201402700404

Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency

21 January 2018

1 reference

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Treatment of hereditary autoinflammatory diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F039463201402700404

Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F039463201402700404

Allogeneic bone marrow transplantation in mevalonic aciduria

21 January 2018

1 reference

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10.1177/039463201402700404

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25572728%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference