(Q34567791)

3 August 2017

6 references

6 March 2019

22 June 2019

28 September 2019

7 November 2019

27 November 2019

13 December 2019

Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome (English)

1 reference

3 August 2017

main subject

hypergammaglobulinemia

6 references

6 March 2019

22 June 2019

28 September 2019

7 November 2019

27 November 2019

13 December 2019

1 reference

28 September 2019

1 reference

7 November 2019

1 reference

27 November 2019

1 reference

13 December 2019

1 reference

1 reference

Dorothea Haas

1

1 reference

3 August 2017

Georg F Hoffmann

series ordinal

2

1 reference

3 August 2017

language of work or name

1 reference

26 April 2006

7 references

Orphanet Journal of Rare Diseases

3 August 2017

6 March 2019

22 June 2019

28 September 2019

7 November 2019

27 November 2019

13 December 2019

7 references

3 August 2017

6 March 2019

22 June 2019

28 September 2019

7 November 2019

27 November 2019

13 December 2019

1

1 reference

3 August 2017

page(s)

13

1 reference

Creative Commons Attribution 2.0 Generic

3 August 2017

copyright license

6 references

6 March 2019

22 June 2019

28 September 2019

7 November 2019

27 November 2019

on focus list of Wikimedia project

13 December 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Mevalonate kinase deficiency: Evidence for a phenotypic continuum.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Novel genotype of mevalonic aciduria with fatalities in premature siblings

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Hereditary periodic fever

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Inherited disorders of cholesterol biosynthesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Increased urinary leukotriene E(4) during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Hyper-immunoglobulin A in the hyperimmunoglobulinemia D syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Inborn errors of cholesterol biosynthesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

Immunological studies in the hyper-immunoglobulin D syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1475558

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

7 July 2018

1 reference

12 December 2020

Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria

1 reference

12 December 2020

Enhanced urinary excretion of leukotriene E4 in patients with mevalonate kinase deficiency

1 reference

12 December 2020

Mevalonate kinase map position 12q24

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-1-13

1 reference

Dimensions Publication ID

3 August 2017

0 references

1 reference

3 August 2017

1 reference