(Q40598493)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11486910%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Mevalonic aciduria and hyper-IgD syndrome: two sides of the same coin? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11486910%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11486910%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

I Kone-Paut

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11486910%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

P Divry

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11486910%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

N Philip

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11486910%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

B Chabrol

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11486910%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

language of work or name

1 reference

1 June 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11486910%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

10 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11486910%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11486910%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11486910%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

413-414

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11486910%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1010577207726

10 November 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy

1 reference

12 December 2020

Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

1 reference

12 December 2020

Crescentic glomerulonephritis in hyper IgD syndrome.

1 reference

12 December 2020