Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency (Q40256504)

18 September 2017

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency (English)

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18 September 2017

Saskia H L Mandey

1

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18 September 2017

Marit S Schneiders

series ordinal

2

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18 September 2017

Janet Koster

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3

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18 September 2017

Hans R Waterham

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4

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18 September 2017

1 August 2006

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18 September 2017

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18 September 2017

27

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18 September 2017

8

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18 September 2017

796-802

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Biochemical and genetic aspects of mevalonate kinase and its deficiency

18 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

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/10.1002%2FHUMU.20361

Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

Regulation of the mevalonate pathway

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

Correction of an enzyme trafficking defect in hereditary kidney stone disease in vitro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

Novel genotype of mevalonic aciduria with fatalities in premature siblings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

Characterization of mevalonate kinase V377I, a mutant implicated in defective isoprenoid biosynthesis and HIDS/periodic fever syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

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/10.1002%2FHUMU.20361

7 January 2021

Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

Infevers: an evolving mutation database for auto-inflammatory syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

Hyperimmunoglobulinaemia D and periodic fever: a new syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

Henoch-Schönlein purpura in a child with hyperimmunoglobulinemia D and periodic fever syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20361

7 January 2021

Identifiers

DOI

10.1002/HUMU.20361

1 reference

18 September 2017

1 reference