Mevalonate kinase deficiency, a metabolic autoinflammatory disease.
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Mevalonate kinase deficiency: current perspectivesNatural history of mevalonate kinase deficiency: a literature reviewThe diagnostic approach to monogenic very early onset inflammatory bowel diseasePerinatal manifestation of mevalonate kinase deficiency and efficacy of anakinraPotential of IL-1, IL-18 and Inflammasome Inhibition for the Treatment of Inflammatory Skin Diseases.When less is more: primary immunodeficiency with an autoinflammatory kickInterleukin-1 as a common denominator from autoinflammatory to autoimmune disorders: premises, perils, and perspectives11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism.Histopathologic features in a case of hyperimmunoglobulinemia D syndrome.Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS)Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase DeficiencyDiagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD).Bisphosphonate Induces Osteonecrosis of the Jaw in Diabetic Mice via NLRP3/Caspase-1-Dependent IL-1β Mechanism.Mevalonate kinase deficiency and neuroinflammation: balance between apoptosis and pyroptosis.Inborn errors of metabolism underlying primary immunodeficiencies.Molecular mechanisms responsible for neuroinflammation and neurological impairments in mevalonate kinase deficiency.The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.Recommendations for the management of autoinflammatory diseases.Autoinflammatory Syndromes in Children.A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.Autoinflammatory Diseases with Periodic Fevers.Association of Long-Term Atorvastatin with Escalated Stroke-Induced Neuroinflammation in Rats.The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.Clinical update on inflammasomopathies.In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.Erythema Nodosum and Fevers.Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases.Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency.The mevalonate pathway as a metabolic requirement for autophagy-implications for growth control, proteostasis, and diseaseHigher Morbidity of Monogenic Inflammatory Bowel Disease Compared to the Adolescent Onset Inflammatory Bowel Disease.Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.Anti-inflammatory and cytoprotective effects of a squalene synthase inhibitor, TAK-475 active metabolite-I, in immune cells simulating mevalonate kinase deficiency (MKD)-like condition.Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis.The complex interplay among hepatocytes and immune cells at the crossroad between inflammation and cholesterol metabolism in hyperglycemia.Neurological Manifestations of Primary Immunodeficiencies
P2860
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P2860
Mevalonate kinase deficiency, a metabolic autoinflammatory disease.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
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artículo científico
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name
Mevalonate kinase deficiency, a metabolic autoinflammatory disease.
@en
type
label
Mevalonate kinase deficiency, a metabolic autoinflammatory disease.
@en
prefLabel
Mevalonate kinase deficiency, a metabolic autoinflammatory disease.
@en
P1433
P1476
Mevalonate kinase deficiency, a metabolic autoinflammatory disease
@en
P2093
Joost Frenkel
Robert van der Burgh
P304
P356
10.1016/J.CLIM.2012.09.011
P577
2012-10-04T00:00:00Z