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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
Movement Disorders, ISSN 0885-3185, 05/2011, Volume 26, Issue 6, pp. 1049 - 1055
Journal Article
Gut, ISSN 0017-5749, 06/2017, Volume 66, Issue 6, pp. 1138 - 1153
Key physiological functions of the liver, including glucose and lipid metabolism, become disturbed in the setting of non-alcoholic fatty liver disease (NAFLD)... 
Cardiovascular Disease | Diabetes Mellitus | Nonalcoholic Steatohepatitis | CORONARY-ARTERY CALCIUM | BONE-MINERAL DENSITY | HEPATIC INSULIN-RESISTANCE | GAMMA-GLUTAMYL-TRANSFERASE | COLORECTAL ADENOMA | TERM-FOLLOW-UP | CHRONIC KIDNEY-DISEASE | GASTROENTEROLOGY & HEPATOLOGY | TYPE-2 DIABETES-MELLITUS | INDEPENDENT RISK-FACTOR | ADIPOSE-TISSUE | Colorectal Neoplasms - epidemiology | Cardiovascular Diseases - etiology | Prevalence | Cytokines - metabolism | Renal Insufficiency, Chronic - etiology | Humans | Risk Factors | Gastrointestinal Microbiome | Adipokines - metabolism | Non-alcoholic Fatty Liver Disease - physiopathology | Osteoporosis - etiology | Diabetes Mellitus, Type 2 - epidemiology | Incidence | Non-alcoholic Fatty Liver Disease - complications | Renal Insufficiency, Chronic - epidemiology | Colorectal Neoplasms - etiology | Animals | Diet | Cardiovascular Diseases - epidemiology | Diabetes Mellitus, Type 2 - etiology | Nutritional Status | Osteoporosis - epidemiology | Causes of | Inflammatory bowel diseases | Liver diseases | Research | Cytokines | Cardiovascular diseases | Adipose tissue | Colorectal cancer | Cardiovascular disease | Metabolic syndrome | Risk factors | Alcohol use | Liver cancer | Glucose metabolism | Ultrasonic imaging | Fatty liver | Atherosclerosis | Tumor necrosis factor-TNF | Lipid metabolism | Diabetes mellitus (non-insulin dependent) | Hypertension | Obesity | Kidneys | Mortality | Diabetes mellitus | Vitamin deficiency | Histology | Inflammation | Dietary intake | Meta-analysis | Steatosis | Studies | Genetic variance | Phospholipase | Coronary vessels | Insulin resistance | Bone mineral density | Diabetes | Kidney diseases
Journal Article
Blood, ISSN 0006-4971, 05/2003, Volume 101, Issue 9, pp. 3373 - 3385
Journal Article