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Revue de Medecine Interne, ISSN 0248-8663, 04/2018, Volume 39, Issue 4, pp. 265 - 270
Mevalonate kinase deficiency is a rare, autosomal recessive, auto-inflammatory disease. This results from mutations in the gene MVK coding for the enzyme... 
Metabolic disorder | Mevalonate aciduria | Autoinflammatory syndrome | Hyper-IgD syndrome | Mevalonate kinase deficiency
Journal Article
Journal Article
Arthritis & Rheumatology, ISSN 2326-5191, 2016, Volume 68, Issue 11, pp. 2795 - 2805
Objective Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to... 
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
Journal Article
Journal Article
Seminars in Immunopathology, ISSN 1863-2297, 2015, Volume 37, Issue 4, pp. 371 - 376
Journal Article
Pediatrics, ISSN 0031-4005, 07/2011, Volume 128, Issue 1, pp. e152 - e159
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 140, Issue 3, pp. 873 - 875.e6
Journal Article
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 11/2019, Volume 498, pp. 122 - 125
Chronic liver disease with conjugated hyperbilirubinaemia and failure to thrive can have multifactorial aetiologies. Investigations can be complex and... 
Jaundice | Cytomegalovirus | Mevalonate kinase | Mevalonic aciduria | Liver disease | GENOTYPE | PHENOTYPE | MEDICAL LABORATORY TECHNOLOGY | Antigen-antibody reactions | Urine | Enzymes | Liver diseases | C-reactive protein | Medical examination | Thrombin | Organic acids | Blood | Virus diseases | Analysis | Prothrombin | Cytomegalovirus infections | Health aspects
Journal Article