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Abscess
Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae.
Acne Vulgaris
Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
Acne Vulgaris
Autoinflammatory gene mutations in Behçet's disease.
Acne Vulgaris
Autoinflammatory syndromes.
Acne Vulgaris
Monogenic Auto-in?ammatory Syndromes: A Review of the Literature.
Acne Vulgaris
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Acne Vulgaris
Pediatric hereditary autoinflammatory syndromes.
Acne Vulgaris
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Acne Vulgaris
Vasculitis in Systemic Autoinflammatory Diseases.
Acne Vulgaris
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome].
Acne Vulgaris
[Pathogenesis and Clinical Examination of Autoinflammatory Syndrome].
Acquired Immunodeficiency Syndrome
Autoinflammatory diseases.
Acquired Immunodeficiency Syndrome
Leishmania donovani Secretory Mevalonate Kinase Regulates Host Immune Response and Facilitates Phagocytosis.
Acquired Immunodeficiency Syndrome
Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.
Acquired Immunodeficiency Syndrome
Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.
Acquired Immunodeficiency Syndrome
The patient journey to diagnosis and treatment of autoinflammatory diseases.
Acquired Immunodeficiency Syndrome
Update on the epidemiology and disease outcome of Familial Mediterranean fever.
adenosine deaminase deficiency
Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
Amyloidosis
AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature.
Amyloidosis
What's new in autoinflammation?
Anemia
A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis.
Anemia
A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia.
Anemia
Perinatal Onset Mevalonate Kinase Deficiency.
Anemia, Aplastic
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Angiomyolipoma
Evidence for a role of geranylgeranylation in renal angiomyolipoma and renal epithelioid angiomyolipoma.
Arthralgia
Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition.
Arthralgia
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
Arthralgia
Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool.
Arthritis
Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
Arthritis
Autoinflammatory gene mutations in Behçet's disease.
Arthritis
Autoinflammatory gene polymorphisms and susceptibility to UK juvenile idiopathic arthritis.
Arthritis
Autoinflammatory syndromes behind the scenes of recurrent fevers in children.
Arthritis
Autoinflammatory syndromes.
Arthritis
Diagnosis and management of autoinflammatory diseases in childhood.
Arthritis
Immunodeficiency-Like Phenotype, Recurrent Pulmonary Manifestations, and Persistent Polyarthritis: Mevalonate Kinase Deficiency Successfully Treated With Adalimumab.
Arthritis
Molecular genetic analysis for periodic fever syndromes: a supplemental role for the diagnosis of adult-onset Still's disease.
Arthritis
Monogenic Auto-in?ammatory Syndromes: A Review of the Literature.
Arthritis
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Arthritis
Pediatric hereditary autoinflammatory syndromes.
Arthritis
The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey.
Arthritis
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Arthritis
Vasculitis in Systemic Autoinflammatory Diseases.
Arthritis
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome].
Arthritis
[Pathogenesis and Clinical Examination of Autoinflammatory Syndrome].
Arthritis, Juvenile
Autoinflammatory gene polymorphisms and susceptibility to UK juvenile idiopathic arthritis.
Arthritis, Juvenile
Autoinflammatory syndromes behind the scenes of recurrent fevers in children.
Arthritis, Juvenile
Molecular genetic analysis for periodic fever syndromes: a supplemental role for the diagnosis of adult-onset Still's disease.
Arthritis, Juvenile
The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey.
Ataxia
Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency.
Ataxia
Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.
Bronchiolitis
Histopathologic features in a case of hyperimmunoglobulinemia D syndrome.
Carcinogenesis
Armitage-Doll two-stage model: implications and extension.
Carcinogenesis
Incorporating additional biological phenomena into two-stage cancer models.
Carcinogenesis
On the exact hazard and survival functions of the MVK stochastic carcinogenesis model.
Carcinogenesis
On the MVK stochastic carcinogenesis model with Erlang distributed cell life lengths.
Carcinogenesis
Universality of j-shaped and u-shaped dose-response relations as emergent properties of stochastic transition systems.
Carcinoma, Hepatocellular
Enzymatic properties of overexpressed HBV-mevalonate kinase fusion proteins and mevalonate kinase proteins in the human hepatoma cell line PLC/PRF/5.
Carcinoma, Hepatocellular
Insertional activation of mevalonate kinase by hepatitis B virus DNA in a human hepatoma cell line.
Cataract
Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency.
Cataract
Probing cataractogenesis associated with mevalonic aciduria.
Cerebellar Ataxia
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.
Cerebellar Ataxia
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
Cerebellar Ataxia
Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Cholestasis
A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis.
Chondrodysplasia Punctata, Rhizomelic
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.
Chondrodysplasia Punctata, Rhizomelic
Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis.
Colitis
A81: spectrum of mevalonate kinase deficiency: is colitis more common than we think?
Colitis
Severe early-onset colitis revealing mevalonate kinase deficiency.
Coronary Disease
Association between the MVK rs2287218 SNP and the risk of coronary heart disease and ischemic stroke: A case-control study.
Coronary Disease
Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population.
Coronary Disease
The effect of
Crohn Disease
Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?
Cryopyrin-Associated Periodic Syndromes
A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin.
Cryopyrin-Associated Periodic Syndromes
A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.
Cryopyrin-Associated Periodic Syndromes
A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference.
Cryopyrin-Associated Periodic Syndromes
An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome.
Cryopyrin-Associated Periodic Syndromes
Analysis of NLRP3, MVK and TNFRSF1A variants in adult Greek patients with autoinflammatory symptoms.
Cryopyrin-Associated Periodic Syndromes
Autoinflammatory diseases.
Cryopyrin-Associated Periodic Syndromes
Autoinflammatory gene mutations in Behçet's disease.
Cryopyrin-Associated Periodic Syndromes
Autoinflammatory syndromes.
Cryopyrin-Associated Periodic Syndromes
Classification criteria for autoinflammatory recurrent fevers.
Cryopyrin-Associated Periodic Syndromes
Clinical and biochemical landmarks in systemic autoinflammatory diseases.
Cryopyrin-Associated Periodic Syndromes
Clinical update on inflammasomopathies.
Cryopyrin-Associated Periodic Syndromes
Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative.
Cryopyrin-Associated Periodic Syndromes
Development of the autoinflammatory disease damage index (ADDI).
Cryopyrin-Associated Periodic Syndromes
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Cryopyrin-Associated Periodic Syndromes
Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers.
Cryopyrin-Associated Periodic Syndromes
Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome.
Cryopyrin-Associated Periodic Syndromes
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Cryopyrin-Associated Periodic Syndromes
How to handle the main drugs to treat autoinflammatory disorders and how we treat common autoinflammatory diseases.
Cryopyrin-Associated Periodic Syndromes
Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?
Cryopyrin-Associated Periodic Syndromes
In silico validation of the Autoinflammatory Disease Damage Index.
Cryopyrin-Associated Periodic Syndromes
Laboratory Tests in the Diagnosis and Follow-Up of Pediatric Rheumatic Diseases: An Update.
Cryopyrin-Associated Periodic Syndromes
Macrophage activation syndrome in the course of monogenic autoinflammatory disorders.
Cryopyrin-Associated Periodic Syndromes
Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre.
Cryopyrin-Associated Periodic Syndromes
Monogenic Auto-in?ammatory Syndromes: A Review of the Literature.
Cryopyrin-Associated Periodic Syndromes
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Cryopyrin-Associated Periodic Syndromes
Monogenic autoinflammatory syndromes at a dermatological level.
Cryopyrin-Associated Periodic Syndromes
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Cryopyrin-Associated Periodic Syndromes
Pediatric hereditary autoinflammatory syndromes.
Cryopyrin-Associated Periodic Syndromes
Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry.
Cryopyrin-Associated Periodic Syndromes
Performance of the new 'Eurofever/PRINTO classification criteria' in FMF patients.
Cryopyrin-Associated Periodic Syndromes
Periodic fevers and other autoinflammatory diseases.
Cryopyrin-Associated Periodic Syndromes
Recommendations for the management of autoinflammatory diseases.
Cryopyrin-Associated Periodic Syndromes
Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.
Cryopyrin-Associated Periodic Syndromes
Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.
Cryopyrin-Associated Periodic Syndromes
Systemic autoinflammatory diseases: Clinical state of the art.
Cryopyrin-Associated Periodic Syndromes
Targeting cytokines to treat autoinflammatory diseases.
Cryopyrin-Associated Periodic Syndromes
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever.
Cryopyrin-Associated Periodic Syndromes
The Broad-Ranging Panorama of Systemic Autoinflammatory Disorders with Specific Focus on Acute Painful Symptoms and Hematologic Manifestations in Children.
Cryopyrin-Associated Periodic Syndromes
The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome.
Cryopyrin-Associated Periodic Syndromes
The fresco of autoinflammatory diseases from the pediatric perspective.
Cryopyrin-Associated Periodic Syndromes
The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.
Cryopyrin-Associated Periodic Syndromes
The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey.
Cryopyrin-Associated Periodic Syndromes
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Cryopyrin-Associated Periodic Syndromes
Treatment of hereditary autoinflammatory diseases.
Cryopyrin-Associated Periodic Syndromes
Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes.
Cryopyrin-Associated Periodic Syndromes
[Autoinflammatory diseases].
Cryopyrin-Associated Periodic Syndromes
[Autoinflammatory syndromes in childhood].
Cryopyrin-Associated Periodic Syndromes
[Clinical overview of auto-inflammatory diseases].
Cryopyrin-Associated Periodic Syndromes
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome].
Cryopyrin-Associated Periodic Syndromes
[Pathogenesis and Clinical Examination of Autoinflammatory Syndrome].
Cryopyrin-Associated Periodic Syndromes
[Periodic fever syndromes].
Cryopyrin-Associated Periodic Syndromes
[Syndrome CINCA/NOMID].
Cryopyrin-Associated Periodic Syndromes
[The laboratory approach in the diagnosis of systemic autoinflammatory diseases].
Cystic Fibrosis
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.
Cytomegalovirus Infections
Mevalonate kinase deficiency masked by cytomegalovirus infection and obscure liver disease.
Deficiency Diseases
Farnesyl-diphosphate synthase is localized in peroxisomes.
Deficiency Diseases
Mevalonate kinase is predominantly localized in peroxisomes and is defective in patients with peroxisome deficiency disorders.
Dyslipidemias
Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population.
Exanthema
Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition.
Exanthema
Diagnosis and management of autoinflammatory diseases in childhood.
Exanthema
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
Eye Abnormalities
The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.
Familial Mediterranean Fever
A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.
Familial Mediterranean Fever
A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference.
Familial Mediterranean Fever
Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation.
Familial Mediterranean Fever
An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome.
Familial Mediterranean Fever
Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
Familial Mediterranean Fever
Autoinflammatory diseases.
Familial Mediterranean Fever
Autoinflammatory diseases: State of the art.
Familial Mediterranean Fever
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
Familial Mediterranean Fever
Clinical and biochemical landmarks in systemic autoinflammatory diseases.
Familial Mediterranean Fever
Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.
Familial Mediterranean Fever
Clinical update on inflammasomopathies.
Familial Mediterranean Fever
Development of the autoinflammatory disease damage index (ADDI).
Familial Mediterranean Fever
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Familial Mediterranean Fever
Growth Parameters of Turkish Children With an Autoinflammatory Disease Before and After Canakinumab Treatment.
Familial Mediterranean Fever
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Familial Mediterranean Fever
How to handle the main drugs to treat autoinflammatory disorders and how we treat common autoinflammatory diseases.
Familial Mediterranean Fever
IL-1 Inhibitors in the Treatment of Monogenic Periodic Fever Syndromes: From the Past to the Future Perspectives.
Familial Mediterranean Fever
In silico validation of the Autoinflammatory Disease Damage Index.
Familial Mediterranean Fever
International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome.
Familial Mediterranean Fever
Laboratory Tests in the Diagnosis and Follow-Up of Pediatric Rheumatic Diseases: An Update.
Familial Mediterranean Fever
Macrophage activation syndrome in the course of monogenic autoinflammatory disorders.
Familial Mediterranean Fever
Mevalonate kinase deficiency (hyper-IgD syndrome) overlap mutation familial Mediterranean fever.
Familial Mediterranean Fever
Monogenic Auto-in?ammatory Syndromes: A Review of the Literature.
Familial Mediterranean Fever
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Familial Mediterranean Fever
Monogenic autoinflammatory syndromes at a dermatological level.
Familial Mediterranean Fever
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Familial Mediterranean Fever
Osteoporosis in Systemic Autoinflammatory Diseases: A Case-Control Study.
Familial Mediterranean Fever
PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report.
Familial Mediterranean Fever
Pediatric hereditary autoinflammatory syndromes.
Familial Mediterranean Fever
Periodic fever syndromes: a patient diagnosed with recurrent Kawasaki disease.
Familial Mediterranean Fever
Periodic fevers and other autoinflammatory diseases.
Familial Mediterranean Fever
Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS.
Familial Mediterranean Fever
Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.
Familial Mediterranean Fever
Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.
Familial Mediterranean Fever
Systemic autoinflammatory diseases: Clinical state of the art.
Familial Mediterranean Fever
Targeting cytokines to treat autoinflammatory diseases.
Familial Mediterranean Fever
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever.
Familial Mediterranean Fever
The Broad-Ranging Panorama of Systemic Autoinflammatory Disorders with Specific Focus on Acute Painful Symptoms and Hematologic Manifestations in Children.
Familial Mediterranean Fever
The fresco of autoinflammatory diseases from the pediatric perspective.
Familial Mediterranean Fever
The patient journey to diagnosis and treatment of autoinflammatory diseases.
Familial Mediterranean Fever
The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.
Familial Mediterranean Fever
The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey.
Familial Mediterranean Fever
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Familial Mediterranean Fever
Treatment of hereditary autoinflammatory diseases.
Familial Mediterranean Fever
Update on the epidemiology and disease outcome of Familial Mediterranean fever.
Familial Mediterranean Fever
Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes.
Familial Mediterranean Fever
[Autoinflammatory diseases in childhood.]
Familial Mediterranean Fever
[Autoinflammatory diseases].
Familial Mediterranean Fever
[Autoinflammatory syndromes in childhood].
Familial Mediterranean Fever
[Clinical overview of auto-inflammatory diseases].
Familial Mediterranean Fever
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome].
Familial Mediterranean Fever
[Hyperimmunoglobulinemia D and periodic fever syndrome].
Familial Mediterranean Fever
[Pathogenesis and Clinical Examination of Autoinflammatory Syndrome].
Familial Mediterranean Fever
[Periodic fever syndromes].
Familial Mediterranean Fever
[The laboratory approach in the diagnosis of systemic autoinflammatory diseases].
Familial Mediterranean Fever
[Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic disease]
Fetal Growth Retardation
Perinatal Onset Mevalonate Kinase Deficiency.
Genetic Diseases, Inborn
Alendronate, a double-edged sword acting in the mevalonate pathway.
Genetic Diseases, Inborn
Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis.
Genetic Diseases, Inborn
Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency.
Genetic Diseases, Inborn
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.
Genetic Diseases, Inborn
Molecular cloning of mevalonate kinase and regulation of its mRNA levels in rat liver.
Glioblastoma
p53 regulates the mevalonate pathway in human glioblastoma multiforme.
Glioblastoma
PBA Preferentially Impairs Cell Survival of Glioblastomas Carrying mutp53 by Reducing Its Expression Level, Stabilizing wtp53, Downregulating the Mevalonate Kinase and Dysregulating UPR.
Glioma
Protein kinase C-dependent cell damage by unsaturated carbonyl compounds in vascular cells.
Hearing Loss
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.
Hemophilia A
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.
Hepatitis B
Insertional activation of mevalonate kinase by hepatitis B virus DNA in a human hepatoma cell line.
Hepatitis, Chronic
Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation.
Hereditary Autoinflammatory Diseases
Autoinflammatory syndromes behind the scenes of recurrent fevers in children.
Hereditary Autoinflammatory Diseases
Classification criteria for autoinflammatory recurrent fevers.
Hereditary Autoinflammatory Diseases
Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes?
Hereditary Autoinflammatory Diseases
Elevated immunoglobulin D levels in children with PFAPA syndrome.
Hereditary Autoinflammatory Diseases
Long-Term Follow-Up and Optimization of Interleukin-1 Inhibitors in the Management of Monogenic Autoinflammatory Diseases: Real-Life Data from the JIR Cohort.
Hereditary Autoinflammatory Diseases
Mevalonate kinase deficiency: disclosing the role of mevalonate pathway modulation in inflammation.
Hereditary Autoinflammatory Diseases
Treatment of hereditary autoinflammatory diseases.
Hereditary Autoinflammatory Diseases
Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes.
Hereditary Autoinflammatory Diseases
Validation of the new classification criteria for hereditary recurrent fever in an independent cohort: experience from the JIR Cohort Database.
Homozygous Familial Hypercholesterolemia
Control of phosphorylation and decarboxylation of mevalonic acid and its metabolites in cultured human fibroblasts and in rat liver in vivo.
Hydrocephalus
Perinatal Onset Mevalonate Kinase Deficiency.
Hydrops Fetalis
A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis.
Hypergammaglobulinemia
Cloning, expression, and purification of His-tagged rat mevalonate kinase.
Hypergammaglobulinemia
Expression, purification, and characterization of His20 mutants of rat mevalonate kinase.
Hypergammaglobulinemia
The structure of a binary complex between a mammalian mevalonate kinase and ATP: insights into the reaction mechanism and human inherited disease.
Hypergammaglobulinemia
Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome.
Infections
Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation.
Infections
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
Infections
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Infections
Molecular Characterization of Trypanosoma evansi Mevalonate Kinase (TeMVK).
Infections
When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease.
Inflammatory Bowel Diseases
Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.
Inflammatory Bowel Diseases
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Ischemic Stroke
Association between the MVK rs2287218 SNP and the risk of coronary heart disease and ischemic stroke: A case-control study.
Ischemic Stroke
The effect of
Leishmaniasis
Leishmania donovani Secretory Mevalonate Kinase Regulates Host Immune Response and Facilitates Phagocytosis.
Leukemia
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Leukocytosis
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Liver Diseases
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Liver Diseases
Mevalonate kinase deficiency associated with recurrent liver dysfunction, macrophage activation syndrome and perforin gene polymorphism.
Liver Diseases
Mevalonate kinase deficiency masked by cytomegalovirus infection and obscure liver disease.
Liver Diseases
Perinatal Onset Mevalonate Kinase Deficiency.
Liver Diseases
Significant liver disease in a patient with Y116H mutation in the MVK gene.
Lung Diseases, Interstitial
When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease.
Lymphadenitis
Classification criteria for autoinflammatory recurrent fevers.
Lymphadenitis
Elevated immunoglobulin D levels in children with PFAPA syndrome.
Lymphadenitis
Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre.
Lymphadenitis
Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry.
Lymphadenitis
Performance of the new 'Eurofever/PRINTO classification criteria' in FMF patients.
Lymphadenitis
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Lymphadenopathy
Diagnosis and management of autoinflammatory diseases in childhood.
Lymphadenopathy
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
Macrophage Activation Syndrome
Mevalonate kinase deficiency associated with recurrent liver dysfunction, macrophage activation syndrome and perforin gene polymorphism.
Macrophage Activation Syndrome
Outburst of Macrophage Activation Syndrome in Mevalonate Kinase Deficiency: Comment on the Article by Schulert et al.
Meningitis, Aseptic
Histopathologic features in a case of hyperimmunoglobulinemia D syndrome.
Metabolic Diseases
Current advances in the understanding and treatment of mevalonate kinase deficiency.
Metabolic Diseases
Investigation of invariant serine/threonine residues in mevalonate kinase. Tests of the functional significance of a proposed substrate binding motif and a site implicated in human inherited disease.
Metabolic Diseases
Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature.
Metabolic Diseases
The phenotype and genotype of mevalonate kinase deficiency: A series of 114 cases from the Eurofever Registry.
Metabolism, Inborn Errors
Coenzyme Q10 in phenylketonuria and mevalonic aciduria.
Mevalonate Kinase Deficiency
25-Hydroxycholesterol and inflammation in Lovastatin-deregulated mevalonate pathway.
Mevalonate Kinase Deficiency
3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium.
Mevalonate Kinase Deficiency
A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis.
Mevalonate Kinase Deficiency
A case of hyperimmunoglobulinemia d syndrome successfully treated with canakinumab.
Mevalonate Kinase Deficiency
A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness.
Mevalonate Kinase Deficiency
A comparative analysis of serologic parameters and oxidative stress in osteoarthritis and rheumatoid arthritis: reply to Mishra and colleagues.
Mevalonate Kinase Deficiency
A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.
Mevalonate Kinase Deficiency
A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia.
Mevalonate Kinase Deficiency
A patient with hyper-IgD syndrome responding to anti-TNF treatment.
Mevalonate Kinase Deficiency
A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference.
Mevalonate Kinase Deficiency
A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
A role for geranylgeranylation in interleukin-1beta secretion.
Mevalonate Kinase Deficiency
A woman with recurrent "infections" since birth--a new mevalonate kinase mutation.
Mevalonate Kinase Deficiency
A81: spectrum of mevalonate kinase deficiency: is colitis more common than we think?
Mevalonate Kinase Deficiency
AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature.
Mevalonate Kinase Deficiency
Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation.
Mevalonate Kinase Deficiency
Advances in basic and clinical immunology in 2016.
Mevalonate Kinase Deficiency
Alendronate, a double-edged sword acting in the mevalonate pathway.
Mevalonate Kinase Deficiency
An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome.
Mevalonate Kinase Deficiency
An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria.
Mevalonate Kinase Deficiency
An Up-to-date Approach to a Patient with a Suspected Autoinflammatory Disease.
Mevalonate Kinase Deficiency
An Update on Autoinflammatory Diseases: Inflammasomopathies.
Mevalonate Kinase Deficiency
Analysis of NLRP3, MVK and TNFRSF1A variants in adult Greek patients with autoinflammatory symptoms.
Mevalonate Kinase Deficiency
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.
Mevalonate Kinase Deficiency
Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
Mevalonate Kinase Deficiency
Autoinflammatory diseases.
Mevalonate Kinase Deficiency
Autoinflammatory diseases: State of the art.
Mevalonate Kinase Deficiency
Autoinflammatory gene mutations in Behçet's disease.
Mevalonate Kinase Deficiency
Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition.
Mevalonate Kinase Deficiency
Autoinflammatory syndromes behind the scenes of recurrent fevers in children.
Mevalonate Kinase Deficiency
Autoinflammatory syndromes.
Mevalonate Kinase Deficiency
Basic and Clinical Observations of Mevalonate Depletion on the Mevalonate Signalling Pathway.
Mevalonate Kinase Deficiency
Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Biochemical and genetic aspects of mevalonate kinase and its deficiency.
Mevalonate Kinase Deficiency
Biologic drugs in autoinflammatory syndromes.
Mevalonate Kinase Deficiency
Block of the mevalonate pathway triggers oxidative and inflammatory molecular mechanisms modulated by exogenous isoprenoid compounds.
Mevalonate Kinase Deficiency
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
Mevalonate Kinase Deficiency
Canakinumab for the treatment of hyperimmunoglobulin D syndrome.
Mevalonate Kinase Deficiency
Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands.
Mevalonate Kinase Deficiency
Characterization of mevalonate kinase V377I, a mutant implicated in defective isoprenoid biosynthesis and HIDS/periodic fever syndrome.
Mevalonate Kinase Deficiency
Cholesterol metabolism drives regulatory B cell IL-10 through provision of geranylgeranyl pyrophosphate.
Mevalonate Kinase Deficiency
Classification criteria for autoinflammatory recurrent fevers.
Mevalonate Kinase Deficiency
Clinical and biochemical landmarks in systemic autoinflammatory diseases.
Mevalonate Kinase Deficiency
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.
Mevalonate Kinase Deficiency
Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.
Mevalonate Kinase Deficiency
Clinical and Genetic Features of Korean Patients with Recurrent Fever and Multi-System Inflammation without Infectious or Autoimmune Evidence.
Mevalonate Kinase Deficiency
Clinical update on inflammasomopathies.
Mevalonate Kinase Deficiency
Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Cloning, expression, and purification of His-tagged rat mevalonate kinase.
Mevalonate Kinase Deficiency
Coenzyme Q10 in phenylketonuria and mevalonic aciduria.
Mevalonate Kinase Deficiency
Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.
Mevalonate Kinase Deficiency
Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency.
Mevalonate Kinase Deficiency
Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative.
Mevalonate Kinase Deficiency
Corrigendum to: Haploidentical ?/? T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Current advances in the understanding and treatment of mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Cutaneous manifestations in mevalonate kinase deficient patients treated with canakinumab.
Mevalonate Kinase Deficiency
Decreased cholesterol levels reflect a consumption of anti-inflammatory isoprenoids associated with an impaired control of inflammation in a mouse model of mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Defect in mevalonate pathway induces pyroptosis in Raw 264.7 murine monocytes.
Mevalonate Kinase Deficiency
Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.
Mevalonate Kinase Deficiency
Defective protein prenylation is a diagnostic biomarker of mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Defects in mitochondrial clearance predispose human monocytes to interleukin-1? hypersecretion.
Mevalonate Kinase Deficiency
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome.
Mevalonate Kinase Deficiency
Development of the autoinflammatory disease damage index (ADDI).
Mevalonate Kinase Deficiency
Diagnosis and management of autoinflammatory diseases in childhood.
Mevalonate Kinase Deficiency
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Mevalonate Kinase Deficiency
Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome.
Mevalonate Kinase Deficiency
Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD).
Mevalonate Kinase Deficiency
Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Different presentations of mevalonate kinase deficiency: a case series.
Mevalonate Kinase Deficiency
Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response.
Mevalonate Kinase Deficiency
Effects of Anakinra on Health-Related Quality of Life in a Patient with 1129G>A/928G>A Mutations in MVK Gene and Heterozygosity for the Mutation 2107C>A in CIAS1 Gene.
Mevalonate Kinase Deficiency
Efficacy of Continuous Interleukin 1 Blockade in Mevalonate Kinase Deficiency: A Multicenter Retrospective Study in 13 Adult Patients and Literature Review.
Mevalonate Kinase Deficiency
Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Elevated immunoglobulin D levels in children with PFAPA syndrome.
Mevalonate Kinase Deficiency
Enhanced urinary excretion of leukotriene E4 in patients with mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Establishment of a transgenic mouse model with liver-specific expression of secretory immunoglobulin D.
Mevalonate Kinase Deficiency
Evidence for a role of geranylgeranylation in renal angiomyolipoma and renal epithelioid angiomyolipoma.
Mevalonate Kinase Deficiency
Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers.
Mevalonate Kinase Deficiency
Evolutionary hypothesis of the Mevalonate Kinase Deficiency.
Mevalonate Kinase Deficiency
Expanding Contributions of Monogenic Very Early Onset Inflammatory Bowel Disease.
Mevalonate Kinase Deficiency
Expression, purification, and characterization of His20 mutants of rat mevalonate kinase.
Mevalonate Kinase Deficiency
Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome.
Mevalonate Kinase Deficiency
Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis.
Mevalonate Kinase Deficiency
Geraniol rescues inflammation in cellular and animal models of mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Geranylgeraniol and Neurological Impairment: Involvement of Apoptosis and Mitochondrial Morphology.
Mevalonate Kinase Deficiency
GRID2 a novel gene possibly associated with mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Growth Parameters of Turkish Children With an Autoinflammatory Disease Before and After Canakinumab Treatment.
Mevalonate Kinase Deficiency
HAPLOIDENTICAL ?/? T-CELL AND B-CELL STEM CELL TRANSPLANTATION IN SEVERE MEVALONATE KINASE DEFICIENCY.
Mevalonate Kinase Deficiency
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Henoch-Schönlein purpura in a child with hyperimmunoglobulinemia D and periodic fever syndrome.
Mevalonate Kinase Deficiency
Hereditary periodic fever syndromes.
Mevalonate Kinase Deficiency
Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome.
Mevalonate Kinase Deficiency
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Mevalonate Kinase Deficiency
Histopathologic features in a case of hyperimmunoglobulinemia D syndrome.
Mevalonate Kinase Deficiency
HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation.
mevalonate kinase deficiency
Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS).
Mevalonate Kinase Deficiency
How to handle the main drugs to treat autoinflammatory disorders and how we treat common autoinflammatory diseases.
Mevalonate Kinase Deficiency
Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.
Mevalonate Kinase Deficiency
Hyper-IgD syndrome or mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Hyper-IgD syndrome with novel mutation in a Japanese girl.
Mevalonate Kinase Deficiency
Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?
Mevalonate Kinase Deficiency
Hyper-immunoglobulin D syndrome with novel mutations in an afebrile infant.
Mevalonate Kinase Deficiency
Hyperimmunoglobulin D syndrome in childhood.
Mevalonate Kinase Deficiency
Hyperimmunoglobulinemia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report.
Mevalonate Kinase Deficiency
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.
Mevalonate Kinase Deficiency
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.
Mevalonate Kinase Deficiency
Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation.
Mevalonate Kinase Deficiency
Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?
Mevalonate Kinase Deficiency
Immunodeficiency-Like Phenotype, Recurrent Pulmonary Manifestations, and Persistent Polyarthritis: Mevalonate Kinase Deficiency Successfully Treated With Adalimumab.
Mevalonate Kinase Deficiency
In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.
Mevalonate Kinase Deficiency
In silico validation of the Autoinflammatory Disease Damage Index.
Mevalonate Kinase Deficiency
Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children.
Mevalonate Kinase Deficiency
Incomplete mitophagy in the mevalonate kinase-deficient Saccharomyces cerevisiae and its relation to the MKD-related autoinflammatory disease in humans.
Mevalonate Kinase Deficiency
Inherited disorders of cholesterol biosynthesis.
Mevalonate Kinase Deficiency
Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome.
Mevalonate Kinase Deficiency
Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism?
Mevalonate Kinase Deficiency
Knockdown of MVK does not lead to changes in NALP3 expression or activation.
Mevalonate Kinase Deficiency
Laboratory Tests in the Diagnosis and Follow-Up of Pediatric Rheumatic Diseases: An Update.
Mevalonate Kinase Deficiency
Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome.
Mevalonate Kinase Deficiency
Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency.
Mevalonate Kinase Deficiency
Lack of Protein Prenylation Promotes Nlrp3 Inflammasome Assembly in Human Monocytes.
Mevalonate Kinase Deficiency
Liver Transplantation Followed by Allogeneic Hematopoietic Stem Cell Transplantation for Atypical Mevalonic Aciduria.
Mevalonate Kinase Deficiency
Long-Term Follow-Up and Optimization of Interleukin-1 Inhibitors in the Management of Monogenic Autoinflammatory Diseases: Real-Life Data from the JIR Cohort.
Mevalonate Kinase Deficiency
Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.
Mevalonate Kinase Deficiency
Long-term outcome of a successful cord blood stem cell transplant in mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Lovastatin-induced apoptosis is modulated by geranylgeraniol in a neuroblastoma cell line.
Mevalonate Kinase Deficiency
Macrophage activation syndrome in the course of monogenic autoinflammatory disorders.
Mevalonate Kinase Deficiency
Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre.
Mevalonate Kinase Deficiency
Management of Mevalonate Kinase Deficiency: A Pediatric Perspective.
Mevalonate Kinase Deficiency
Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.
Mevalonate Kinase Deficiency
Mevalonate Kinase Deficiency (Hyper IgD Syndrome with Periodic Fever) - Different Faces with Separate Treatments: Two Cases and Review of the Literature.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency (hyper-IgD syndrome) overlap mutation familial Mediterranean fever.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency and autoinflammation.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency and autoinflammatory disorders.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency and Dutch type periodic fever.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency and IBD: shared genetic background.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency and neuroinflammation: balance between apoptosis and pyroptosis.
Mevalonate Kinase Deficiency
Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency associated with recurrent liver dysfunction, macrophage activation syndrome and perforin gene polymorphism.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency masked by cytomegalovirus infection and obscure liver disease.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency nomenclature.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency syndrome with structural damage responsive to anakinra.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency, a metabolic autoinflammatory disease.
Mevalonate Kinase Deficiency
Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency: a survey of 50 patients.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency: current perspectives.
Mevalonate Kinase Deficiency
Mevalonate Kinase Deficiency: Diagnostic and Management Challenges.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency: disclosing the role of mevalonate pathway modulation in inflammation.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
Mevalonate Kinase Deficiency
Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Mevalonate Kinase Deficiency
Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level.
Mevalonate Kinase Deficiency
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.
Mevalonate Kinase Deficiency
Mevalonate Pathway Blockade, Mitochondrial Dysfunction and Autophagy: A Possible Link.
Mevalonate Kinase Deficiency
Mevalonic acidemia: first case of Japan.
Mevalonate Kinase Deficiency
Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy.
Mevalonate Kinase Deficiency
Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts.
Mevalonate Kinase Deficiency
Mevalonic aciduria: report of two cases.
Mevalonate Kinase Deficiency
Mevalonolactone disrupts mitochondrial functions and induces permeability transition pore opening in rat brain mitochondria: Implications for the pathogenesis of mevalonic aciduria.
Mevalonate Kinase Deficiency
Microglia activation and interaction with neuronal cells in a biochemical model of mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.
Mevalonate Kinase Deficiency
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
Mevalonate Kinase Deficiency
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 phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa.
Mevalonate Kinase Deficiency
Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.
Mevalonate Kinase Deficiency
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.
Mevalonate Kinase Deficiency
Molecular cloning of mevalonate kinase and regulation of its mRNA levels in rat liver.
Mevalonate Kinase Deficiency
Molecular mechanisms responsible for neuroinflammation and neurological impairments in mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Monocyte Production of IFN-? Is Interleukin-12 Dependent in a Model of Mevalonate Kinase Deficiency.
Mevalonate Kinase Deficiency
Monogenic Auto-in?ammatory Syndromes: A Review of the Literature.
Mevalonate Kinase Deficiency
Monogenic autoinflammatory syndromes at a dermatological level.
Mevalonate Kinase Deficiency
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Mevalonate Kinase Deficiency
Mouse model of mevalonate kinase deficiency: comparison of cytokine and chemokine profile with that of human patients.
Mevalonate Kinase Deficiency
Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
Mevalonate Kinase Deficiency
Natural history of mevalonate kinase deficiency: a literature review.
Mevalonate Kinase Deficiency
Natural isoprenoids are able to reduce inflammation in a mouse model of mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Neuronal Dysfunction Associated with Cholesterol Deregulation.
Mevalonate Kinase Deficiency
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.
Mevalonate Kinase Deficiency
Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome.
Mevalonate Kinase Deficiency
Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency.
Mevalonate Kinase Deficiency
On-demand anakinra treatment is effective in mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
Mevalonate Kinase Deficiency
Osteoporosis in Systemic Autoinflammatory Diseases: A Case-Control Study.
Mevalonate Kinase Deficiency
Outburst of Macrophage Activation Syndrome in Mevalonate Kinase Deficiency: Comment on the Article by Schulert et al.
Mevalonate Kinase Deficiency
Overview of the rarest causes of fever in newborns: handy hints for the neonatologist.
Mevalonate Kinase Deficiency
PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report.
Mevalonate Kinase Deficiency
Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation.
Mevalonate Kinase Deficiency
Pediatric hereditary autoinflammatory syndromes.
Mevalonate Kinase Deficiency
Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry.
Mevalonate Kinase Deficiency
Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.
Mevalonate Kinase Deficiency
Perinatal Onset Mevalonate Kinase Deficiency.
Mevalonate Kinase Deficiency
Periodic fever in children with hyperimmunoglobulinemia D and mevalonate kinase mutations.
Mevalonate Kinase Deficiency
Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease.
Mevalonate Kinase Deficiency
Periodic fevers and other autoinflammatory diseases.
Mevalonate Kinase Deficiency
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
Mevalonate Kinase Deficiency
Potential of IL-1, IL-18 and Inflammasome Inhibition for the Treatment of Inflammatory Skin Diseases.
Mevalonate Kinase Deficiency
Prenylation defects in inherited retinal diseases.
Mevalonate Kinase Deficiency
Probing cataractogenesis associated with mevalonic aciduria.
Mevalonate Kinase Deficiency
Prolonged treatment with mevalonolactone induces oxidative stress response with reactive oxygen species production, mitochondrial depolarization and inflammation in human glioblastoma U-87 MG cells.
Mevalonate Kinase Deficiency
Putative modifier genes in mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS.
Mevalonate Kinase Deficiency
Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity.
Mevalonate Kinase Deficiency
Recommendations for the management of autoinflammatory diseases.
Mevalonate Kinase Deficiency
Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients.
Mevalonate Kinase Deficiency
Regulatory adaptation of isoprenoid biosynthesis and the LDL receptor pathway in fibroblasts from patients with mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Repositioning Of Tak-475 In Mevalonate Kinase Disease: Translating Theory Into Practice.
Mevalonate Kinase Deficiency
Respiratory deficiency in yeast mevalonate kinase deficient may explain MKD-associate metabolic disorder in humans.
Mevalonate Kinase Deficiency
Retinitis pigmentosa and punctate cataracts in mevalonic aciduria.
Mevalonate Kinase Deficiency
Retinitis pigmentosa in mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Serum amyloid A (SAA), inflammation, cholesterol and mevalonate kinase deficiency - reply.
Mevalonate Kinase Deficiency
Severe early-onset colitis revealing mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria.
Mevalonate Kinase Deficiency
Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome.
Mevalonate Kinase Deficiency
Specific increase in caspase-1 activity and secretion of IL-1 family cytokines: a putative link between mevalonate kinase deficiency and inflammation.
Mevalonate Kinase Deficiency
Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.
Mevalonate Kinase Deficiency
Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.
Mevalonate Kinase Deficiency
Statin synergizes with LPS to induce IL-1beta release by THP-1 cells through activation of caspase-1.
Mevalonate Kinase Deficiency
Systemic and neuronal inflammatory markers in a mouse model of mevalonate kinase deficiency: a strain-comparative study.
Mevalonate Kinase Deficiency
Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.
Mevalonate Kinase Deficiency
Systemic autoinflammatory diseases: Clinical state of the art.
Mevalonate Kinase Deficiency
Targeting farnesyl-transferase as a novel therapeutic strategy for mevalonate kinase deficiency: in vitro and in vivo approaches.
Mevalonate Kinase Deficiency
Temperature and drug treatments in mevalonate kinase deficiency: an ex vivo study.
Mevalonate Kinase Deficiency
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever.
Mevalonate Kinase Deficiency
The Broad-Ranging Panorama of Systemic Autoinflammatory Disorders with Specific Focus on Acute Painful Symptoms and Hematologic Manifestations in Children.
Mevalonate Kinase Deficiency
The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome.
Mevalonate Kinase Deficiency
The effect of clodronate on a mevalonate kinase deficiency cellular model.
Mevalonate Kinase Deficiency
The farnesyl transferase inhibitors Tipifarnib and Lonafarnib inhibit cytokines secretion in a cellular model of mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
The fresco of autoinflammatory diseases from the pediatric perspective.
Mevalonate Kinase Deficiency
The inherited autoinflammatory syndrome: a decade of discovery.
Mevalonate Kinase Deficiency
The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
The lack of non-steroid isoprenoids causes oxidative stress in patients with mevalonic aciduria.
Mevalonate Kinase Deficiency
The phenotype and genotype of mevalonate kinase deficiency: A series of 114 cases from the Eurofever Registry.
Mevalonate Kinase Deficiency
The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.
Mevalonate Kinase Deficiency
The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey.
Mevalonate Kinase Deficiency
The structure of a binary complex between a mammalian mevalonate kinase and ATP: insights into the reaction mechanism and human inherited disease.
Mevalonate Kinase Deficiency
TLR2/TLR4-dependent exaggerated cytokine production in hyperimmunoglobulinaemia D and periodic fever syndrome.
Mevalonate Kinase Deficiency
Tocilizumab for the Treatment of Mevalonate Kinase Deficiency.
Mevalonate Kinase Deficiency
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Mevalonate Kinase Deficiency
Treatment of hereditary autoinflammatory diseases.
Mevalonate Kinase Deficiency
Treatment of hyperimmunoglobulinemia D syndrome with biologics in children: review of the literature and Finnish experience.
Mevalonate Kinase Deficiency
Two?gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.
Mevalonate Kinase Deficiency
Ultrasonographic findings in hyperimmunoglobulin D syndrome: a case report.
Mevalonate Kinase Deficiency
Unprenylated RhoA contributes to IL-1? hypersecretion in mevalonate kinase deficiency model through stimulation of Rac1 activity.
Mevalonate Kinase Deficiency
Update on the epidemiology and disease outcome of Familial Mediterranean fever.
Mevalonate Kinase Deficiency
Vaccinations in juvenile chronic inflammatory diseases: an update.
Mevalonate Kinase Deficiency
Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes.
Mevalonate Kinase Deficiency
Validation of the new classification criteria for hereditary recurrent fever in an independent cohort: experience from the JIR Cohort Database.
Mevalonate Kinase Deficiency
Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes.
Mevalonate Kinase Deficiency
Vasculitis in Systemic Autoinflammatory Diseases.
Mevalonate Kinase Deficiency
Weekly oral alendronate in mevalonate kinase deficiency.
Mevalonate Kinase Deficiency
What's new in autoinflammation?
Mevalonate Kinase Deficiency
When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease.
Mevalonate Kinase Deficiency
[Autoinflammatory diseases in childhood.]
Mevalonate Kinase Deficiency
[Autoinflammatory syndromes in childhood].
Mevalonate Kinase Deficiency
[Clinical overview of auto-inflammatory diseases].
Mevalonate Kinase Deficiency
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome].
Mevalonate Kinase Deficiency
[Mevalonate kinase deficiency in 2016].
Mevalonate Kinase Deficiency
[MVK gene abnormality and new approach to treatment of hyper IgD syndrome and periodic fever syndrome]
Mevalonate Kinase Deficiency
[Pathogenesis and Clinical Examination of Autoinflammatory Syndrome].
Mevalonate Kinase Deficiency
[Periodic fever syndromes].
Mevalonate Kinase Deficiency
[Syndrome CINCA/NOMID].
Mevalonate Kinase Deficiency
[The laboratory approach in the diagnosis of systemic autoinflammatory diseases].
Mevalonate Kinase Deficiency
[Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic disease]
Milk Hypersensitivity
Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency.
Mucocutaneous Lymph Node Syndrome
Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease.
Mucocutaneous Lymph Node Syndrome
Periodic fever syndromes: a patient diagnosed with recurrent Kawasaki disease.
Murine Acquired Immunodeficiency Syndrome
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Muscle Hypotonia
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.
Muscular Diseases
Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency.
Muscular Diseases
Molecular clues into the pathogenesis of statin-mediated muscle toxicity.
Myelodysplastic Syndromes
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Neoplasms
A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.
Neoplasms
A numerical solution to the nonhomogeneous two-stage MVK model of cancer.
Neoplasms
A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference.
Neoplasms
Acknowledgment of Prior Solution to MVK Cancer Model.
Neoplasms
An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome.
Neoplasms
An Up-to-date Approach to a Patient with a Suspected Autoinflammatory Disease.
Neoplasms
Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
Neoplasms
Autoinflammatory diseases.
Neoplasms
Autoinflammatory syndromes behind the scenes of recurrent fevers in children.
Neoplasms
Biologically based pharmacodynamic models: tools for toxicological research and risk assessment.
Neoplasms
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
Neoplasms
Classification criteria for autoinflammatory recurrent fevers.
Neoplasms
Clinical and biochemical landmarks in systemic autoinflammatory diseases.
Neoplasms
Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.
Neoplasms
Comparison of experimental and theoretical parameters of the Moolgavkar-Venzon-Knudson incidence function for the stages of initiation and promotion in rat hepatocarcinogenesis.
Neoplasms
Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.
Neoplasms
Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative.
Neoplasms
Consideration of tissue response in the application of the two-mutation model to radiation carcinogenesis.
Neoplasms
Development of the autoinflammatory disease damage index (ADDI).
Neoplasms
Diagnosis and management of autoinflammatory diseases in childhood.
Neoplasms
Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers.
Neoplasms
Growth Parameters of Turkish Children With an Autoinflammatory Disease Before and After Canakinumab Treatment.
Neoplasms
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Neoplasms
Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?
Neoplasms
IL-1 Inhibitors in the Treatment of Monogenic Periodic Fever Syndromes: From the Past to the Future Perspectives.
Neoplasms
Improving the Theranostic Potential of Exendin 4 by Reducing the Renal Radioactivity through Brush Border Membrane Enzyme-Mediated Degradation.
Neoplasms
In silico validation of the Autoinflammatory Disease Damage Index.
Neoplasms
International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome.
Neoplasms
Laboratory Tests in the Diagnosis and Follow-Up of Pediatric Rheumatic Diseases: An Update.
Neoplasms
Macrophage activation syndrome in the course of monogenic autoinflammatory disorders.
Neoplasms
Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre.
Neoplasms
Mechanistic Models Fit to ED001 Data on >40,000 Trout Exposed to Dibenzo[A,L]pyrene Indicate Mutations Do Not Drive Increased Tumor Risk.
Neoplasms
Monogenic autoinflammatory syndromes at a dermatological level.
Neoplasms
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Neoplasms
Optimization of Enzymolysis Clearance Strategy To Enhance Renal Clearance of Radioligands.
Neoplasms
PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report.
Neoplasms
PBA Preferentially Impairs Cell Survival of Glioblastomas Carrying mutp53 by Reducing Its Expression Level, Stabilizing wtp53, Downregulating the Mevalonate Kinase and Dysregulating UPR.
Neoplasms
Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry.
Neoplasms
Recommendations for the management of autoinflammatory diseases.
Neoplasms
Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.
Neoplasms
Systemic autoinflammatory diseases: Clinical state of the art.
Neoplasms
The Broad-Ranging Panorama of Systemic Autoinflammatory Disorders with Specific Focus on Acute Painful Symptoms and Hematologic Manifestations in Children.
Neoplasms
The fresco of autoinflammatory diseases from the pediatric perspective.
Neoplasms
The intermediate enzymes of isoprenoid metabolism as anticancer targets.
Neoplasms
The patient journey to diagnosis and treatment of autoinflammatory diseases.
Neoplasms
The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.
Neoplasms
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Neoplasms
Treatment of hereditary autoinflammatory diseases.
Neoplasms
Universality of j-shaped and u-shaped dose-response relations as emergent properties of stochastic transition systems.
Neoplasms
Update on the epidemiology and disease outcome of Familial Mediterranean fever.
Neoplasms
Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes.
Neoplasms
Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes.
Neoplasms
Vasculitis in Systemic Autoinflammatory Diseases.
Neoplasms
[Autoinflammatory diseases in childhood.]
Neoplasms
[Autoinflammatory syndromes in childhood].
Neoplasms
[Periodic fever syndromes].
Neoplasms
[The laboratory approach in the diagnosis of systemic autoinflammatory diseases].
Nephritis
Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency.
Neuroblastoma
Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency.
Neuroinflammatory Diseases
Knockdown of MVK does not lead to changes in NALP3 expression or activation.
Neuroinflammatory Diseases
Mevalonate kinase deficiency and neuroinflammation: balance between apoptosis and pyroptosis.
Neuroinflammatory Diseases
Molecular mechanisms responsible for neuroinflammation and neurological impairments in mevalonate kinase deficiency.
Neurologic Manifestations
Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Neutropenia
Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.
ornithine carbamoyltransferase deficiency
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.
Ornithine Carbamoyltransferase Deficiency Disease
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.
Osteomyelitis
Autoinflammatory syndromes.
Peroxisomal Disorders
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.
Pharyngitis
Classification criteria for autoinflammatory recurrent fevers.
Pharyngitis
Elevated immunoglobulin D levels in children with PFAPA syndrome.
Pharyngitis
Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre.
Pharyngitis
Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry.
Pharyngitis
Performance of the new 'Eurofever/PRINTO classification criteria' in FMF patients.
Pharyngitis
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Phenylketonurias
Coenzyme Q10 in phenylketonuria and mevalonic aciduria.
Porokeratosis
A novel mutation for disseminated superficial actinic porokeratosis in the MVK gene.
Porokeratosis
A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis.
Porokeratosis
A novel non-frameshift deletion in MVK gene responsible for disseminated superficial actinic porokeratosis in one Chinese family.
Porokeratosis
Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes.
Porokeratosis
Disorder of the mevalonate pathway inhibits calcium-induced differentiation of keratinocytes.
Porokeratosis
Effects of mevalonate kinase interference on cell differentiation, apoptosis, prenylation and geranylgeranylation of human keratinocytes are attenuated by farnesyl pyrophosphate or geranylgeranyl pyrophosphate.
Porokeratosis
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
Porokeratosis
Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis.
Porokeratosis
Identification of three novel frameshift mutations of the MVK gene in four Chinese families with disseminated superficial actinic porokeratosis.
Porokeratosis
Mutation analysis of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis.
Porokeratosis
Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis.
Porokeratosis
Novel mutation in MVK gene for co-occurrence of disseminated superficial actinic porokeratosis with porokeratosis ptychotropica.
Porokeratosis
Splicing mutation in MVK is a cause of porokeratosis of Mibelli.
Porokeratosis
The Novel Mevalonate Kinase Mutations Cause Disseminated Superficial Actinic Porokeratosis.
Porokeratosis
Updating and correcting the description of MVK mutations identified in Chinese patients with disseminated superficial actinic porokeratosis.
Pre-Eclampsia
[Central hemodynamics and kidney function in women with pre-eclampsia]
Prostatic Neoplasms
Inhibiting geranylgeranyl diphosphate synthesis reduces nuclear androgen receptor signaling and neuroendocrine differentiation in prostate cancer cell models.
Psoriasis
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Pyelonephritis
[Central hemodynamics and kidney function in women with pre-eclampsia]
Pyoderma Gangrenosum
Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
Pyoderma Gangrenosum
Autoinflammatory gene mutations in Behçet's disease.
Pyoderma Gangrenosum
Autoinflammatory syndromes.
Pyoderma Gangrenosum
Monogenic Auto-in?ammatory Syndromes: A Review of the Literature.
Pyoderma Gangrenosum
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Pyoderma Gangrenosum
Pediatric hereditary autoinflammatory syndromes.
Pyoderma Gangrenosum
Vasculitis in Systemic Autoinflammatory Diseases.
Pyoderma Gangrenosum
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome].
Pyoderma Gangrenosum
[Pathogenesis and Clinical Examination of Autoinflammatory Syndrome].
Renal Insufficiency
Perinatal Onset Mevalonate Kinase Deficiency.
Retinitis Pigmentosa
Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.
Retinitis Pigmentosa
Mutations in the Mevalonate Kinase (MVK) Gene Cause Nonsyndromic Retinitis Pigmentosa.
Retinitis Pigmentosa
Prenylation defects in inherited retinal diseases.
Retinitis Pigmentosa
Retinitis pigmentosa in mevalonate kinase deficiency.
Rheumatic Diseases
Vaccinations in juvenile chronic inflammatory diseases: an update.
Sarcoidosis
Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
Sarcoidosis
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Simian Acquired Immunodeficiency Syndrome
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Simian Acquired Immunodeficiency Syndrome
How to prescribe a genetic test for the diagnosis of autoinflammatory diseases?
Simian Acquired Immunodeficiency Syndrome
Molecular genetic analysis for periodic fever syndromes: a supplemental role for the diagnosis of adult-onset Still's disease.
Simian Acquired Immunodeficiency Syndrome
The Broad-Ranging Panorama of Systemic Autoinflammatory Disorders with Specific Focus on Acute Painful Symptoms and Hematologic Manifestations in Children.
Skin Diseases
Potential of IL-1, IL-18 and Inflammasome Inhibition for the Treatment of Inflammatory Skin Diseases.
Smith-Lemli-Opitz Syndrome
Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism?
Starvation
Effects of different nutritional conditions on chick liver mevalonate-activating enzymes.
Stomatitis, Aphthous
Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition.
Stomatitis, Aphthous
Elevated immunoglobulin D levels in children with PFAPA syndrome.
Stomatitis, Aphthous
Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre.
Stomatitis, Aphthous
Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry.
Thrombocytopenia
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Thrombocytopenia
Perinatal Onset Mevalonate Kinase Deficiency.
Urticaria
Autoinflammatory diseases.
Urticaria
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Vasculitis
Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation.
Vasculitis
Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes.
Wiskott-Aldrich Syndrome
Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation.
Zellweger Syndrome
Cholesterol biosynthesis in Zellweger syndrome: normal activity of mevalonate kinase, mevalonate-5'-pyrophosphate decarboxylase and IPP-isomerase in patients' fibroblasts but deficient mevalonate kinase activity in liver.
Zellweger Syndrome
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.
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