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Arthritis & Rheumatology, ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
ObjectiveMevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe... 
MVK | HYPER-IGD | PERIODIC FEVER SYNDROME | ACIDURIA | HYPERIMMUNOGLOBULINEMIA-D | AUTOINFLAMMATORY DISEASES | MUTATIONS | SPECTRUM | RHEUMATOLOGY | Arthralgia - etiology | Uveitis - etiology | Humans | Child, Preschool | Lymphadenopathy - etiology | Male | Arthralgia - physiopathology | Arthritis - genetics | Stomatitis, Aphthous - genetics | Cerebellar Diseases - physiopathology | Amyloidosis - genetics | Skin Diseases - physiopathology | Amyloidosis - etiology | Child | Stomatitis, Aphthous - etiology | Infant, Newborn | Myalgia - physiopathology | Amyloidosis - physiopathology | Genotype | Headache - physiopathology | Vomiting - genetics | Phenotype | Diarrhea - genetics | Abdominal Pain - genetics | Adolescent | Age of Onset | Intellectual Disability - etiology | Uveitis - genetics | Vomiting - physiopathology | Conjunctivitis - etiology | Conjunctivitis - genetics | Arthritis - physiopathology | Headache - etiology | Skin Diseases - genetics | Mevalonate Kinase Deficiency - physiopathology | Myalgia - genetics | Cerebellar Diseases - etiology | Diarrhea - physiopathology | Infant | Mevalonate Kinase Deficiency - genetics | Intellectual Disability - genetics | Pharyngitis - genetics | Arthritis - etiology | Female | Registries | Retrospective Studies | Arthralgia - genetics | Pharyngitis - physiopathology | Abdominal Pain - etiology | Pharyngitis - etiology | Lymphadenopathy - genetics | Abdominal Pain - physiopathology | Myalgia - etiology | Phosphotransferases (Alcohol Group Acceptor) - genetics | Headache - genetics | Intellectual Disability - physiopathology | Skin Diseases - etiology | Cerebellar Diseases - genetics | Conjunctivitis - physiopathology | Mevalonate Kinase Deficiency - complications | Stomatitis, Aphthous - physiopathology | Vomiting - etiology | Diarrhea - etiology | Lymphadenopathy - physiopathology | Uveitis - physiopathology | Kinases | Genotype & phenotype | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Arthritis Care & Research, ISSN 2151-464X, 04/2017, Volume 69, Issue 4, pp. 578 - 586
Objective. Periodic fever syndrome (PFS) conditions are characterized by recurrent attacks of fever and localized inflammation. This study examined the... 
AUTOINFLAMMATORY DISEASES | MANAGEMENT | RHEUMATOLOGY | COLCHICINE-RESISTANT | RECOMMENDATIONS | FREQUENCY | Predictive Value of Tests | United States - epidemiology | Mevalonate Kinase Deficiency - epidemiology | Humans | Middle Aged | Child, Preschool | Infant | Male | Fever - epidemiology | Mevalonate Kinase Deficiency - genetics | Young Adult | Time Factors | Delayed Diagnosis - trends | Adult | Female | Familial Mediterranean Fever - epidemiology | Retrospective Studies | Child | Antirheumatic Agents - therapeutic use | Biological Products - therapeutic use | Severity of Illness Index | Familial Mediterranean Fever - genetics | Europe - epidemiology | Fever - diagnosis | Treatment Outcome | Familial Mediterranean Fever - drug therapy | Hereditary Autoinflammatory Diseases - diagnosis | Mevalonate Kinase Deficiency - drug therapy | Hereditary Autoinflammatory Diseases - drug therapy | Mevalonate Kinase Deficiency - diagnosis | Practice Patterns, Physicians' - trends | Rheumatology - trends | Adolescent | Fever - genetics | Aged | Familial Mediterranean Fever - diagnosis | Referral and Consultation - trends | Hereditary Autoinflammatory Diseases - epidemiology | Electronic Health Records | Fever - drug therapy | Hereditary Autoinflammatory Diseases - genetics | Mevalonate kinase | Mevalonic acid | Serositis | Tumor necrosis factor | Interleukin 1 receptor antagonist | Interleukin 1 | Tumor necrosis factor-TNF | Familial Mediterranean fever | Colchicine | Fever
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 140, Issue 3, pp. 873 - 875.e6
Journal Article
Medicine, ISSN 0025-7974, 2008, Volume 87, Issue 6, pp. 301 - 310
Journal Article
Journal Article
Rheumatology International, ISSN 0172-8172, 2015, Volume 35, Issue 4, pp. 657 - 659
Mevalonate kinase deficiency (MKD) is a rare autosomal disease caused by mutations in the mevalonate kinase gene (MVK). The genotype-phenotype correlation is... 
GRID2 gene | Exome analysis | Mevalonate kinase deficiency | RHEUMATOLOGY | CEREBELLAR-ATAXIA | Genetic Predisposition to Disease | Phenotype | Genetic Association Studies | Receptors, Glutamate - genetics | Humans | Alleles | Genotype | Mutation | Mevalonate Kinase Deficiency - genetics | Genetic research | Genetic aspects | Gene mutations | Glutamate | Analysis | Genes
Journal Article
Pediatrics, ISSN 0031-4005, 02/2012, Volume 129, Issue 2, pp. e535 - e539
Mevalonic aciduria (MA) represents the severest form of mevalonate kinase deficiency due to recessively inherited, loss-of-function MVK mutations. MA is an... 
HIDS | Anti-IL-1 therapy | Autoinflammatory diseases | Metabolic diseases | Mevalonic aciduria | Mevalonate kinase deficiency | Hyper-IgD and periodic fever | anti-IL-1 therapy | MVK | CHOLESTEROL | metabolic diseases | BONE-MARROW-TRANSPLANTATION | autoinflammatory diseases | PERIODIC FEVER SYNDROME | ANAKINRA | mevalonate kinase deficiency | hyper-IgD and periodic fever | ISOPRENE BIOSYNTHESIS | HYPERIMMUNOGLOBULINEMIA-D SYNDROME | HYPER-IGD | ACIDURIA | PEDIATRICS | MUTATIONS | Fever of Unknown Origin - genetics | Genes, Recessive - genetics | Humans | Infant | Male | Mevalonate Kinase Deficiency - genetics | Myoclonic Cerebellar Dyssynergia - diagnosis | Genetic Variation | Psychomotor Disorders - genetics | DNA Mutational Analysis | Failure to Thrive - diagnosis | Child | Fever of Unknown Origin - diagnosis | Diagnosis, Differential | Failure to Thrive - genetics | Myoclonic Cerebellar Dyssynergia - genetics | Genotype | Mevalonate Kinase Deficiency - drug therapy | Mevalonate Kinase Deficiency - diagnosis | Cerebellum - pathology | Mevalonic Acid - urine | Magnetic Resonance Imaging | Phenotype | Cerebellar Ataxia - genetics | Interleukin 1 Receptor Antagonist Protein - therapeutic use | Psychomotor Disorders - diagnosis | Alleles | Brain - pathology | Cerebellar Ataxia - diagnosis | Mevalonate | Gene mutations | Causes of | Genetic aspects | Research | Health aspects | Pediatrics | Genotype & phenotype | Genetics | Mutation | Medical treatment | Metabolic disorders
Journal Article
Journal Article