(Q54472181)

30 May 2018

title

Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria. (English)

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30 May 2018

author name string

Chitra Prasad

series ordinal

1

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30 May 2018

Marina I Salvadori

series ordinal

2

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30 May 2018

C A Rupar

series ordinal

3

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30 May 2018

publication date

24 October 2012

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30 May 2018

Molecular Genetics and Metabolism

published in

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30 May 2018

volume

107

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30 May 2018

issue

4

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30 May 2018

page(s)

756-759

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30 May 2018

Mevalonic aciduria: an inborn error of cholesterol biosynthesis?

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Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome

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Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts

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Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation

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

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Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes

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Mevalonate kinase deficiency: a survey of 50 patients.

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Mevalonate kinase deficiency: Evidence for a phenotypic continuum.

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Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome

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

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The lack of non-steroid isoprenoids causes oxidative stress in patients with mevalonic aciduria

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Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency

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Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency

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Specific increase in caspase-1 activity and secretion of IL-1 family cytokines: a putative link between mevalonate kinase deficiency and inflammation

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Pharmacological inhibitors of the mevalonate pathway activate pro-IL-1 processing and IL-1 release by human monocytes.

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Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation

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Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.

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Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis.

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Mevalonic aciduria cured by bone marrow transplantation

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Abnormal prenatal ultrasound findings in mevalonic aciduria

7 January 2021

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Identification, evolution, and essentiality of the mevalonate pathway for isopentenyl diphosphate biosynthesis in gram-positive cocci

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7 January 2021

Identifiers

DOI

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30 May 2018

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30 May 2018