(Q40521342)

21 September 2017

title

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever (English)

1 reference

21 September 2017

Laura Obici

11

0 references

Marco Seri

object named as

Marco Seri

14

0 references

Isabella Ceccherini

object named as

Isabella Ceccherini

17

0 references

Marco Gattorno

4

object named as

Marco Gattorno

1 reference

21 September 2017

2

Paolo Picco

1 reference

21 September 2017

8

Alberto Tommasini

1 reference

21 September 2017

15

Roberto Ravazzolo

1 reference

21 September 2017

1

Andrea D'Osualdo

1 reference

21 September 2017

12

Antonella Meini

1 reference

21 September 2017

7

Fabrizia Corona

1 reference

21 September 2017

Francesco Caroli

3

1 reference

21 September 2017

Raffaella Giacchino

5

1 reference

21 September 2017

Patrizia Fortini

6

1 reference

21 September 2017

Giuseppe Salvi

9

1 reference

21 September 2017

Fernando Specchia

10

1 reference

21 September 2017

Antonio Ricci

13

1 reference

21 September 2017

Alberto Martini

16

1 reference

21 September 2017

publication date

1 March 2005

1 reference

European Journal of Human Genetics

21 September 2017

published in

1 reference

21 September 2017

volume

13

1 reference

21 September 2017

issue

3

1 reference

21 September 2017

page(s)

314-320

1 reference

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum

21 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

Hyperimmunoglobulinaemia D and periodic fever: a new syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

Infevers: an evolving mutation database for auto-inflammatory syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

Overt and occult rheumatic diseases: the child with chronic fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

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

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) in a child with normal serum IgD, but increased serum IgA concentration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

Atypical hypergammaglobulinaemia D syndrome with amyloidosis: an overlap with familial Mediterranean fever?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

Novel genotype of mevalonic aciduria with fatalities in premature siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

The structure of a binary complex between a mammalian mevalonate kinase and ATP: insights into the reaction mechanism and human inherited disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

Hyper-immunoglobulin A in the hyperimmunoglobulinemia D syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

inferred from DOI database lookup

7 January 2021

based on heuristic

Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201323

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201323

1 reference

Dimensions Publication ID

21 September 2017

1035526905

0 references

Fatcat ID

release_a6csfjsipjclva2y75ukdskeua

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/a6csfjsipjclva2y75ukdskeua

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference